ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826800120
Gene: NPHP4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000598206
RCV001257064
RCV001334815
ClinVar Variation:
497880
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278522.1:p.Arg25Gln
CA554517
NM_001291593.2:c.74G>A