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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
Allele Registry
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Canonical Allele Identifier:
CA2749546859
Gene: CYP1B1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.38076384_38076610del , CM000664.2:g.38076384_38076610del
GRCh38
NC_000002.11:g.38303526_38303752del , CM000664.1:g.38303526_38303752del
GRCh37
NC_000002.10:g.38157030_38157256del
NCBI36
NG_008386.2:g.4500_4726del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000494864.1:c.-70-5292_-70-5066del
ENSP00000479876.1:n.-70-5292_-70-5066del
XM_011533236.1:c.998_1174+50del
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