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: PA916026893

Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 197149

ClinVar RCV Id: RCV000178107 RCV000282371

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310473.1:p.Trp147Arg	CA275246 NM_001323544.2:c.439T>A CA397087517 NM_001323544.2:c.439T>C