ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825519571
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
431086
ClinVar RCV Id:
RCV000496198
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078896.2:p.Pro182Arg
CA412177603
NM_001085427.3:c.545C>G