Canonical Allele Identifier: PA915992510
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 205394
ClinVar RCV Id: RCV000187351 RCV003765178
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165891.1:p.Thr4Ile
CA314424
NM_001172420.2:c.11C>T