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: PA2828083076

Gene: HGSNAT HGNC NCBI

Linked Data

ClinVar Variation Id: 1234

ClinVar RCV Id: RCV000001293 RCV001378638 RCV003323346

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350158.1:p.Met194Lys	CA114867 NM_001363229.2:c.581T>A