Canonical Allele Identifier: PA2828065283
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 1048519
ClinVar RCV Id: RCV001353058 RCV002547576
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349711.1:p.Arg215Trp
CA412174765
NM_001362782.2:c.643C>T
CA2695231028
NM_001362782.2:c.642_643delinsAT