ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658827139
Gene: ARSA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000672928
ClinVar Variation:
556866
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000478.3:p.Arg86Leu
CA412181784
NM_000487.5:c.257G>T