Canonical Allele Identifier: PA2828108507
Gene: ASAH1 HGNC NCBI
ClinVar RCV:
RCV000000115
ClinVar Variation:
95
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350672.1:p.Leu117Val
CA113846
NM_001363743.1:c.349C>G