ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830369129
Gene: ASAH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_808592.2:p.Thr335Met
CA4650600
NM_177924.5:c.1004C>T