Canonical Allele Identifier: PA2829144087
Gene: CERS1 HGNC NCBI
ClinVar RCV:
RCV002598172
ClinVar Variation:
1917315
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001374372.1:p.His171Tyr
CA404865573
NM_001387443.1:c.511C>T