Canonical Allele Identifier: PA916043460
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 68134
ClinVar RCV Id: RCV000058965 RCV000631449
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349711.1:p.Pro64Leu
CA219024
NM_001362782.2:c.191C>T
CA645612061
NM_001362782.2:c.190_191delinsTT