Allele Registry

Canonical Allele Identifier: PA2827318364

Gene: CCDC40 HGNC NCBI

ClinVar RCV:

RCV000250370

RCV002401959

ClinVar Variation:

260953

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317437.1:p.Glu511Gln	CA8813877 NM_001330508.2:c.1531G>C