Canonical Allele Identifier: PA2825665745
Gene: NPHP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 288369
ClinVar RCV Id: RCV000363080 RCV000765499 RCV001084490 RCV004535410
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121651.1:p.Met205Thr
CA1827217
NM_001128179.3:c.614T>C