Canonical Allele Identifier: PA915970670
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 3073
ClinVar RCV Id: RCV000003219 RCV003993733
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001078896.2:p.Arg246Cys
CA278034
NM_001085427.3:c.736C>T