Canonical Allele Identifier: PA916043443
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 68129
ClinVar RCV Id: RCV000058960 RCV000803574
ClinVar Variation Id: 1455794
ClinVar RCV Id: RCV001950830
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349711.1:p.Gly15Val
CA219014
NM_001362782.2:c.44G>T
CA2573158322
NM_001362782.2:c.44_45delinsTT