Canonical Allele Identifier: PA2826063987
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2064
ClinVar RCV Id: RCV000002145 RCV000178317 RCV000513761 RCV001838977 RCV003764516
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165891.1:p.Phe210Leu
CA115320
NM_001172420.2:c.628T>C
CA364452368
NM_001172420.2:c.630T>A
CA364452370
NM_001172420.2:c.630T>G