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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
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Canonical Allele Identifier:
CA1789659694
Gene: CYP7B1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.64604734G= , CM000670.2:g.64604734G=
GRCh38
NC_000008.10:g.65517291G= , CM000670.1:g.65517291G=
GRCh37
NC_000008.9:g.65679845G=
NCBI36
NG_008338.1:g.199058C=
NG_008338.2:g.199058C=
Transcript Alleles
HGVS
Amino-acid change
ENST00000310193.4:c.1181C=
MANE Select
ENSP00000310721.3:p.Ala394=
ENST00000310193.3:c.1181C=
ENSP00000310721.3:p.Ala394=
ENST00000523954.1:n.455C=
NM_004820.3:c.1181C=
NP_004811.1:p.Ala394=
NM_001324112.1:c.1181C=
NP_001311041.1:p.Ala394=
NM_004820.4:c.1181C=
NP_004811.1:p.Ala394=
XM_017014002.1:c.1247C=
XP_016869491.1:p.Ala416=
NM_004820.5:c.1181C=
MANE Select
NP_004811.1:p.Ala394=
NM_001324112.2:c.1181C=
NP_001311041.1:p.Ala394=
Search 100 bp 5'
Search 100 bp 3'