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: PA645397702

Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 284192

ClinVar RCV Id: RCV000314283 RCV000675526 RCV001087801

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000503.1:p.Val480Phe	CA8234665 NM_000512.5:c.1438G>T