Canonical Allele Identifier: PA2829879652
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3087541
ClinVar RCV Id: RCV004377374

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060570.2:p.Ala545Thr
CA3856140
NM_018100.3:c.1633G>A