ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139679426
Gene: ARSA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078896.2:p.Arg498Leu
CA10324719
NM_001085427.3:c.1493G>T