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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:
CA2749546801
Gene: CYP1B1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.38076313_38076314insACAA , CM000664.2:g.38076313_38076314insACAA
GRCh38
NC_000002.11:g.38303455_38303456insACAA , CM000664.1:g.38303455_38303456insACAA
GRCh37
NC_000002.10:g.38156959_38156960insACAA
NCBI36
NG_008386.2:g.4788_4789insTTGT
Transcript Alleles
HGVS
Amino-acid Change
ENST00000494864.1:c.-70-5004_-70-5003insTTGT
ENSP00000479876.1:n.-70-5004_-70-5003insTTGT
XM_011533236.1:c.927_928insACAA
XP_011531538.1:p.Gln310ThrfsTer17
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