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: PA2825518599

Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 726836

ClinVar RCV Id: RCV000901101 RCV002051904

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078894.2:p.Asn442Ser	CA10324747 NM_001085425.3:c.1325A>G