Canonical Allele Identifier: PA314395
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 205378
ClinVar RCV Id: RCV000187335 RCV003765167
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060570.2:p.Val183Ile
CA314394
NM_018100.3:c.547G>A