ClinGen Allele Registry
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Canonical Allele Identifier:
PA278039
Gene: ARSA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
18124
ClinVar RCV:
RCV000003231
RCV000723375
ClinVar Variation:
3085
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000478.3:p.Arg392Trp
CA278038
NM_000487.5:c.1174C>T