ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA115973
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3062
ClinVar RCV Id:
RCV000003208
RCV000058959
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000478.3:p.Ser98Leu
CA115971
NM_000487.5:c.292_293delinsCT