ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830528935
Gene: NPHP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288529
ClinVar RCV Id:
RCV000303839
RCV001067121
RCV004021253
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997064.2:p.Thr651Met
CA1826867
NM_207181.4:c.1952C>T