Canonical Allele Identifier: PA2828722248
Gene: GPHN HGNC NCBI

Linked Data

ClinVar Variation Id: 88674
ClinVar RCV Id: RCV000074361
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364447.1:p.Asp599Ala
CA145288
NM_001377518.1:c.1796A>C