Canonical Allele Identifier: PA288810
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 128970
ClinVar RCV Id: RCV000116952 RCV000576679 RCV001529255 RCV003764822
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060570.2:p.Arg294His
CA288809
NM_018100.3:c.881G>A