Canonical Allele Identifier: PA2830528935
Gene: NPHP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 288529

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_997064.2:p.Thr651Met
CA1826867
NM_207181.4:c.1952C>T