Canonical Allele Identifier: PA2826064120
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 850535
ClinVar RCV Id: RCV002489637
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165891.1:p.Thr451Ser
CA3856082
NM_001172420.2:c.1352C>G
CA364457374
NM_001172420.2:c.1351A>T