ClinGen Allele Registry
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Canonical Allele Identifier:
PA916043463
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3066
ClinVar RCV Id:
RCV000003212
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349711.1:p.Gly70Asp
CA278026
NM_001362782.2:c.209G>A