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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:
CA1245628849
Gene: CYP1B1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1682540383
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.38076312_38076315dup , CM000664.2:g.38076312_38076315dup
GRCh38
NC_000002.11:g.38303454_38303457dup , CM000664.1:g.38303454_38303457dup
GRCh37
NC_000002.10:g.38156958_38156961dup
NCBI36
NG_008386.2:g.4787_4790dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000494864.1:c.-70-5005_-70-5002dup
ENSP00000479876.1:n.-70-5005_-70-5002dup
XM_011533236.1:c.926_929dup
XP_011531538.1:p.Phe312GlyfsTer15
Search 100 bp 5'
Search 100 bp 3'