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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:
CA1245628765
Gene: CYP1B1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.38076189_38076196delinsGGGTAGAA , CM000664.2:g.38076189_38076196delinsGGGTAGAA
GRCh38
NC_000002.11:g.38303331_38303338delinsGGGTAGAA , CM000664.1:g.38303331_38303338delinsGGGTAGAA
GRCh37
NC_000002.10:g.38156835_38156842delinsGGGTAGAA
NCBI36
NG_008386.2:g.4906_4913delinsTTCTACCC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000494864.1:c.-70-4886_-70-4879delinsTTCTACCC
ENSP00000479876.1:n.-70-4886_-70-4879delinsTTCTACCC
XM_011533236.1:c.803_810delinsGGGTAGAA
XP_011531538.1:p.Trp268=
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