Canonical Allele Identifier: PA314477
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 205422
ClinVar RCV Id: RCV000187381
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060570.2:p.Arg636His
CA314476
NM_018100.3:c.1907G>A