ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645502495
Gene: NPHP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
240967
ClinVar RCV Id:
RCV000233672
RCV000248287
RCV000364078
RCV001093858
RCV002294087
RCV003224236
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055917.1:p.Arg740His
CA554238
NM_015102.5:c.2219G>A