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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:
CA2749546897
Gene: CYP1B1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.38076406_38076407insAGT , CM000664.2:g.38076406_38076407insAGT
GRCh38
NC_000002.11:g.38303548_38303549insAGT , CM000664.1:g.38303548_38303549insAGT
GRCh37
NC_000002.10:g.38157052_38157053insAGT
NCBI36
NG_008386.2:g.4695_4696insACT
Transcript Alleles
HGVS
Amino-acid change
ENST00000494864.1:c.-70-5097_-70-5096insACT
ENSP00000479876.1:n.-70-5097_-70-5096insACT
XM_011533236.1:c.1020_1021insAGT
XP_011531538.1:p.Pro340_Gln341insSer
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