Canonical Allele Identifier: PA314465
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_060570.2:p.Glu589Lys
CA314464
NM_018100.3:c.1765G>A