Canonical Allele Identifier: PA2826064135
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 946011
ClinVar RCV Id: RCV003770252
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165891.1:p.Met497Leu
CA3856119
NM_001172420.2:c.1489A>C
CA364458060
NM_001172420.2:c.1489A>T