ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573177947
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1367463
ClinVar RCV Id:
RCV001962316
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078896.2:p.Ser188Ala
CA412177531
NM_001085427.3:c.562T>G