ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499303422
Gene: CERS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1017566
ClinVar RCV Id:
RCV001316735
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937850.1:p.Arg273His
CA9318146
NM_198207.3:c.818G>A