Canonical Allele Identifier: PA2826063938
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 196484
ClinVar RCV Id: RCV000177299 RCV000438446 RCV003927641 RCV003765095
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165891.1:p.Arg140Gly
CA302934
NM_001172420.2:c.418C>G