ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829976050
Gene: CERS1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001213402
ClinVar Variation:
943251
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_067090.1:p.Pro260Leu
CA9318152
NM_021267.5:c.779C>T