ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573207749
Gene: ARSA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349711.1:p.Pro64Ser
CA412180070
NM_001362782.2:c.190C>T