ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825518384
Gene: ARSA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078894.2:p.Asp283Tyr
CA219058
NM_001085425.3:c.847G>T