Canonical Allele Identifier: PA2828480695
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_001361186.1:p.Met268Thr
CA1827217
NM_001374257.1:c.803T>C