Canonical Allele Identifier: PA2826063952
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 205378
ClinVar RCV Id: RCV000187335 RCV003765167
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165891.1:p.Val164Ile
CA314394
NM_001172420.2:c.490G>A