Canonical Allele Identifier: PA2826064145
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1055947
ClinVar RCV Id: RCV003771107
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165891.1:p.Pro506Leu
CA364458142
NM_001172420.2:c.1517C>T