Canonical Allele Identifier: PA2825518533
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 68116
ClinVar RCV Id: RCV000058946 RCV000150058
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001078894.2:p.Arg392Gln
CA218988
NM_001085425.3:c.1175G>A