ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825188912
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1946728
ClinVar RCV Id:
RCV002659128
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000478.3:p.Glu309Gly
CA412174585
NM_000487.5:c.926A>G