Canonical Allele Identifier: PA2828722608
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_001364448.1:p.Asp593Ala
CA145288
NM_001377519.1:c.1778A>C