Canonical Allele Identifier: PA2826064182
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 128964
ClinVar RCV Id: RCV000116945 RCV000403217 RCV000173878 RCV003764816
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165891.1:p.Glu585Asp
CA231078
NM_001172420.2:c.1755A>C
CA364458940
NM_001172420.2:c.1755A>T