ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826800824
Gene: NPHP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1380519
ClinVar RCV Id:
RCV001886383
RCV002490103
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278522.1:p.Ala827Thr
CA17124873
NM_001291593.2:c.2479G>A