ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825188926
Gene: ARSA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003501561
ClinVar Variation:
2727052
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000478.3:p.Gly311Cys
CA412174553
NM_000487.5:c.931G>T