Allele Registry

Canonical Allele Identifier: PA645377322

Gene: EFHC1 HGNC NCBI

ClinVar RCV:

RCV000431419

RCV003147458

ClinVar Variation:

383453

HGVS (amino-acid)	Matching Registered Transcripts
NP_060570.2:p.Ile315Phe	CA16605059 NM_018100.3:c.943A>T