Canonical Allele Identifier: PA115321
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_060570.2:p.Phe229Leu
CA115320
NM_018100.3:c.685T>C
CA364452368
NM_018100.3:c.687T>A
CA364452370
NM_018100.3:c.687T>G