Canonical Allele Identifier: PA2826063977
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 357481
ClinVar RCV Id: RCV000324087
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165891.1:p.Lys203_Val205delinsAsn
CA10627242
NM_001172420.2:c.609_614del