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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:
CA1245628769
Gene: CYP1B1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.38076192_38076195delinsTAGA , CM000664.2:g.38076192_38076195delinsTAGA
GRCh38
NC_000002.11:g.38303334_38303337delinsTAGA , CM000664.1:g.38303334_38303337delinsTAGA
GRCh37
NC_000002.10:g.38156838_38156841delinsTAGA
NCBI36
NG_008386.2:g.4907_4910delinsTCTA
Transcript Alleles
HGVS
Amino-acid Change
ENST00000494864.1:c.-70-4885_-70-4882delinsTCTA
ENSP00000479876.1:n.-70-4885_-70-4882delinsTCTA
XM_011533236.1:c.806_809delinsTAGA
XP_011531538.1:p.Val269=
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