ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828065181
Gene: ARSA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349711.1:p.Pro147Thr
CA278032
NM_001362782.2:c.439C>A