Canonical Allele Identifier: PA2826064176
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 205415
ClinVar RCV Id: RCV000187373 RCV000347358
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165891.1:p.Glu570Lys
CA314464
NM_001172420.2:c.1708G>A