Canonical Allele Identifier: PA2828721840
Gene: GPHN HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364446.1:p.Asp604Ala
CA145288
NM_001377517.1:c.1811A>C