Canonical Allele Identifier: PA113847
Gene: ASAH1 HGNC NCBI
ClinVar RCV:
RCV000000115
ClinVar Variation:
95
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004306.3:p.Leu198Val
CA113846
NM_004315.6:c.592C>G