ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825518440
Gene: ARSA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001172253
ClinVar Variation:
800500
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078894.2:p.Gly311Arg
CA412174550
NM_001085425.3:c.931G>C