Canonical Allele Identifier: PA2825624631
Gene: ASAH1 HGNC NCBI
ClinVar RCV:
RCV000000115
ClinVar Variation:
95
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001120977.1:p.Leu176Val
CA113846
NM_001127505.3:c.526C>G