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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:
CA2749546904
Gene: CYP1B1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.38076416_38076417insA , CM000664.2:g.38076416_38076417insA
GRCh38
NC_000002.11:g.38303558_38303559insA , CM000664.1:g.38303558_38303559insA
GRCh37
NC_000002.10:g.38157062_38157063insA
NCBI36
NG_008386.2:g.4685_4686insT
Transcript Alleles
HGVS
Amino-acid Change
ENST00000494864.1:c.-70-5107_-70-5106insT
ENSP00000479876.1:n.-70-5107_-70-5106insT
XM_011533236.1:c.1030_1031insA
XP_011531538.1:p.Ala344AspfsTer?
Search 100 bp 5'
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