Canonical Allele Identifier: PA314425
Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 205394
ClinVar RCV Id: RCV000187351 RCV003765178
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060570.2:p.Thr23Ile
CA314424
NM_018100.3:c.68C>T