Canonical Allele Identifier: PA218987
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 68115
ClinVar RCV Id: RCV000058945 RCV001329307 RCV003387751
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.Arg386Cys
CA218986
NM_000487.5:c.1156C>T