ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825188840
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1716214
ClinVar RCV Id:
RCV002303292
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000478.3:p.Leu273Pro
CA412175978
NM_000487.5:c.818T>C