ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825520176
Gene: ARSA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078897.1:p.Arg306Gln
CA218988
NM_001085428.3:c.917G>A