ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830369012
Gene: ASAH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_808592.2:p.Val246Ala
CA4650694
NM_177924.5:c.737T>C