Canonical Allele Identifier: PA2826064043
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1060501
ClinVar RCV Id: RCV002242645
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165891.1:p.Leu316Arg
CA364455601
NM_001172420.2:c.947T>G