Canonical Allele Identifier: PA645468979
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_000263.2:p.Met324Thr
CA1827217
NM_000272.5:c.971T>C