Canonical Allele Identifier: PA145289
Gene: GPHN HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065857.1:p.Asp613Ala
CA145288
NM_020806.5:c.1838A>C