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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
Allele Registry
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Canonical Allele Identifier:
CA2804766306
Gene: CYP1A2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.74752077del , CM000677.2:g.74752077del
GRCh38
NC_000015.9:g.75044418del , CM000677.1:g.75044418del
GRCh37
NC_000015.8:g.72831471del
NCBI36
NG_008431.1:g.34536del
NG_008431.2:g.34536del
NG_061543.1:g.8233del
Transcript Alleles
HGVS
Amino-acid change
ENST00000343932.5:c.1043-47del
MANE Select
ENSP00000342007.4:n.1043-47del
ENST00000343932.4:c.1043-47del
ENSP00000342007.4:n.1043-47del
NM_000761.4:c.1043-47del
NP_000752.2:n.1043-47del
NM_000761.5:c.1043-47del
MANE Select
NP_000752.2:n.1043-47del
Search 100 bp 5'
Search 100 bp 3'