Canonical Allele Identifier: PA094968
Gene: PHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65406
ClinVar RCV Id: RCV000055626 RCV000162141
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004417.2:p.Leu992Phe
CA214438
NM_004426.3:c.2974C>T