ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105720
Gene: ASAH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
812478
ClinVar RCV Id:
RCV001003307
RCV003558631
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_808592.2:p.Arg254Gly
CA370429322
NM_177924.5:c.760A>G