Canonical Allele Identifier: PA2828065447
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 3052
ClinVar RCV Id: RCV000003197 RCV000003195 RCV000003196 RCV000020314 RCV000392246 RCV001251909
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349711.1:p.Pro342Leu
CA115956
NM_001362782.2:c.1025C>T