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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:
CA2749546901
Gene: CYP1B1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.38076414_38076415insGAG , CM000664.2:g.38076414_38076415insGAG
GRCh38
NC_000002.11:g.38303556_38303557insGAG , CM000664.1:g.38303556_38303557insGAG
GRCh37
NC_000002.10:g.38157060_38157061insGAG
NCBI36
NG_008386.2:g.4687_4688insCTC
Transcript Alleles
HGVS
Amino-acid change
ENST00000494864.1:c.-70-5105_-70-5104insCTC
ENSP00000479876.1:n.-70-5105_-70-5104insCTC
XM_011533236.1:c.1028_1029insGAG
XP_011531538.1:p.His343delinsGlnSer
Search 100 bp 5'
Search 100 bp 3'