Canonical Allele Identifier: PA916061795
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 644582
ClinVar RCV Id: RCV003768495

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060570.2:p.Met516Ile
CA138992853
NM_018100.3:c.1548G>A
CA364458074
NM_018100.3:c.1548G>C
CA364458075
NM_018100.3:c.1548G>T