ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA218983
Gene: ARSA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000058943
ClinVar Variation:
68113
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000478.3:p.Tyr378Asn
CA218982
NM_000487.5:c.1132T>A