ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916043465
Gene: ARSA
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001349711.1:p.Pro71Arg
NM_001362782.2:c.212C>G