Allele Registry

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.

Canonical Allele Identifier: PA094994

Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 4539

ClinVar RCV Id: RCV000004797 RCV003581554 RCV003311642

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Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_116056.3:p.Ala212Pro