Canonical Allele Identifier: PA2828065253
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 431089
ClinVar RCV Id: RCV000496194
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349711.1:p.Asn198Lys
CA412175583
NM_001362782.2:c.594T>G
CA412175586
NM_001362782.2:c.594T>A