Canonical Allele Identifier: PA2829143582
Gene: CERS1 HGNC NCBI
ClinVar RCV:
RCV001316735
ClinVar Variation:
1017566
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001374369.1:p.Arg273His
CA9318146
NM_001387440.1:c.818G>A