ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825665596
Gene: NPHP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216416
ClinVar RCV Id:
RCV000196832
RCV000730183
RCV001128696
RCV001135698
RCV001128695
RCV002282034
RCV002517295
RCV002478707
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121650.1:p.Glu621Gln
CA336743
NM_001128178.3:c.1861G>C