Canonical Allele Identifier: PA231079
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 128964

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060570.2:p.Glu604Asp
CA231078
NM_018100.3:c.1812A>C
CA364458940
NM_018100.3:c.1812A>T