Canonical Allele Identifier: PA2573254171
Gene: CEP250 HGNC NCBI

Linked Data

ClinVar Variation Id: 1421430
ClinVar RCV Id: RCV001916914
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009117.2:p.Met124Leu
CA408753185
NM_007186.6:c.370A>C
CA408753188
NM_007186.6:c.370A>T