Canonical Allele Identifier: PA314419
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 205391
ClinVar RCV Id: RCV000187348 RCV000509213 RCV003765176
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060570.2:p.Val273Leu
CA314418
NM_018100.3:c.817G>T
CA364452754
NM_018100.3:c.817G>C