Canonical Allele Identifier: PA2825518339
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 3074
ClinVar RCV Id: RCV000003220 RCV000020321 RCV000723992
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001078894.2:p.Gly247Arg
CA115983
NM_001085425.3:c.739G>A
CA412176465
NM_001085425.3:c.739G>C