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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:
CA2749546906
Gene: CYP1B1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.38076419_38076425del , CM000664.2:g.38076419_38076425del
GRCh38
NC_000002.11:g.38303561_38303567del , CM000664.1:g.38303561_38303567del
GRCh37
NC_000002.10:g.38157065_38157071del
NCBI36
NG_008386.2:g.4677_4683del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000494864.1:c.-70-5115_-70-5109del
ENSP00000479876.1:n.-70-5115_-70-5109del
XM_011533236.1:c.1033_1039del
XP_011531538.1:p.Arg345ThrfsTer?
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