Canonical Allele Identifier: PA2825624721
Gene: ASAH1 HGNC NCBI
ClinVar RCV:
RCV000000111
ClinVar Variation:
91
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001120977.1:p.Thr216Lys
CA113838
NM_001127505.3:c.647C>A