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: PA243178

Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 196276

ClinVar RCV Id: RCV000177070 RCV002222426 RCV002517709

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000478.3:p.Arg219His	CA243177 NM_000487.5:c.656G>A