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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:
CA2749546903
Gene: CYP1B1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.38076415_38076416insAGA , CM000664.2:g.38076415_38076416insAGA
GRCh38
NC_000002.11:g.38303557_38303558insAGA , CM000664.1:g.38303557_38303558insAGA
GRCh37
NC_000002.10:g.38157061_38157062insAGA
NCBI36
NG_008386.2:g.4686_4687insTCT
Transcript Alleles
HGVS
Amino-acid Change
ENST00000494864.1:c.-70-5106_-70-5105insTCT
ENSP00000479876.1:n.-70-5106_-70-5105insTCT
XM_011533236.1:c.1029_1030insAGA
XP_011531538.1:p.His343_Ala344insArg
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