Canonical Allele Identifier: PA2826064136
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 644582
ClinVar RCV Id: RCV003768495
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165891.1:p.Met497Ile
CA138992853
NM_001172420.2:c.1491G>A
CA364458074
NM_001172420.2:c.1491G>C
CA364458075
NM_001172420.2:c.1491G>T