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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:
CA2749546802
Gene: CYP1B1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.38076319_38076320insAG , CM000664.2:g.38076319_38076320insAG
GRCh38
NC_000002.11:g.38303461_38303462insAG , CM000664.1:g.38303461_38303462insAG
GRCh37
NC_000002.10:g.38156965_38156966insAG
NCBI36
NG_008386.2:g.4782_4783insCT
Transcript Alleles
HGVS
Amino-acid Change
ENST00000494864.1:c.-70-5010_-70-5009insCT
ENSP00000479876.1:n.-70-5010_-70-5009insCT
XM_011533236.1:c.933_934insAG
XP_011531538.1:p.Phe312SerfsTer?
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