Canonical Allele Identifier: PA2828721520
Gene: GPHN HGNC NCBI

Linked Data

ClinVar Variation Id: 1995840
ClinVar RCV Id: RCV002819410

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364446.1:p.Gln14His
CA390255108
NM_001377517.1:c.42A>C
CA390255109
NM_001377517.1:c.42A>T