Canonical Allele Identifier: PA2830528551
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_997064.2:p.Met323Thr
CA1827217
NM_207181.4:c.968T>C