ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645502530
Gene: NPHP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
291052
ClinVar RCV Id:
RCV000279729
RCV002059309
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055917.1:p.Ala968Thr
CA553883
NM_015102.5:c.2902G>A