Canonical Allele Identifier: PA2826064076
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 205407
ClinVar RCV Id: RCV000187364

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165891.1:p.Asn377Ser
CA314448
NM_001172420.2:c.1130A>G