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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:
CA1801528447
Gene: CALB1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.90083162_90083163delinsAT , CM000670.2:g.90083162_90083163delinsAT
GRCh38
NC_000008.10:g.91095390_91095391delinsAT , CM000670.1:g.91095390_91095391delinsAT
GRCh37
NC_000008.9:g.91164566_91164567delinsAT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000514406.2:c.-92-1061_-92-1060delinsAT
ENSP00000430192.1:n.-92-1061_-92-1060delinsAT
ENST00000520613.5:c.-92-1061_-92-1060delinsAT
ENSP00000430281.1:n.-92-1061_-92-1060delinsAT
ENST00000523716.5:c.-92-1061_-92-1060delinsAT
ENSP00000429246.1:n.-92-1061_-92-1060delinsAT
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