ClinGen Allele Registry
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Canonical Allele Identifier:
PA115968
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3060
ClinVar RCV Id:
RCV000003206
RCV000666302
RCV000714802
RCV002286693
RCV001813940
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000478.3:p.Gly311Ser
CA115967
NM_000487.5:c.931G>A