ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2824998295
Gene: ARSA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
ENSP00000216124.5:p.Asp283Tyr
CA219058
ENST00000216124.9:c.847G>T