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: PA275000

Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 194322

ClinVar RCV Id: RCV000174663 RCV000723965

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Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_000144.2:p.Glu515Lys