Canonical Allele Identifier: PA645424810
Gene: CCDC40 HGNC NCBI
ClinVar RCV:
RCV000228173
ClinVar Variation:
241231
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060420.2:p.Ala380Thr
CA8813695
NM_017950.4:c.1138G>A