ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825518794
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
21186
ClinVar RCV Id:
RCV000003205
RCV000020316
RCV000723563
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078895.2:p.Arg86Gln
CA115965
NM_001085426.3:c.257G>A