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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:
CA1801528489
Gene: CALB1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.90083251_90083253delinsTTA , CM000670.2:g.90083251_90083253delinsTTA
GRCh38
NC_000008.10:g.91095479_91095481delinsTTA , CM000670.1:g.91095479_91095481delinsTTA
GRCh37
NC_000008.9:g.91164655_91164657delinsTTA
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000514406.2:c.-92-1151_-92-1149delinsTAA
ENSP00000430192.1:n.-92-1151_-92-1149delinsTAA
ENST00000520613.5:c.-92-1151_-92-1149delinsTAA
ENSP00000430281.1:n.-92-1151_-92-1149delinsTAA
ENST00000523716.5:c.-92-1151_-92-1149delinsTAA
ENSP00000429246.1:n.-92-1151_-92-1149delinsTAA
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