Canonical Allele Identifier: PA645377194
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_060570.2:p.Lys222_Val224delinsAsn
CA10627242
NM_018100.3:c.666_671del