ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA145289
Gene: GPHN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
94254
ClinVar RCV:
RCV000074361
ClinVar Variation:
88674
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065857.1:p.Asp613Ala
CA145288
NM_020806.5:c.1838A>C