Canonical Allele Identifier: PA2826064094
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198888
ClinVar RCV Id: RCV000724108 RCV003765104
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165891.1:p.Arg417Cys
CA247780
NM_001172420.2:c.1249C>T