Canonical Allele Identifier: PA105832
Gene: ASAH1 HGNC NCBI
ClinVar RCV:
RCV000000111
ClinVar Variation:
91
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_808592.2:p.Thr222Lys
CA113838
NM_177924.5:c.665C>A