Canonical Allele Identifier: PA314433
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 205398
ClinVar RCV Id: RCV000187355 RCV000472645 RCV003765181
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060570.2:p.Arg51Trp
CA314432
NM_018100.3:c.151C>T