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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:
CA2749546886
Gene: CYP1B1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.38076402_38076422del , CM000664.2:g.38076402_38076422del
GRCh38
NC_000002.11:g.38303544_38303564del , CM000664.1:g.38303544_38303564del
GRCh37
NC_000002.10:g.38157048_38157068del
NCBI36
NG_008386.2:g.4684_4704del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000494864.1:c.-70-5108_-70-5088del
ENSP00000479876.1:n.-70-5108_-70-5088del
XM_011533236.1:c.1016_1036del
XP_011531538.1:p.Cys339_Arg345del
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