ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139740482
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
800496
ClinVar RCV Id:
RCV001172249
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349711.1:p.Gly38Asp
CA412180773
NM_001362782.2:c.113G>A