Canonical Allele Identifier: PA2825518231
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 3057
ClinVar RCV Id: RCV000003202 RCV000003203 RCV000020320 RCV000657846 RCV001267385
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001078894.2:p.Ile181Ser
CA115962
NM_001085425.3:c.542T>G