Canonical Allele Identifier: PA302935
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 196484
ClinVar RCV Id: RCV000177299 RCV000438446 RCV003927641 RCV003765095
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060570.2:p.Arg159Gly
CA302934
NM_018100.3:c.475C>G