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: PA2573061581

Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 1335157

ClinVar RCV Id: RCV001815765

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Asp240Asn	CA390749393 NM_000153.4:c.718G>A