Canonical Allele Identifier: PA358009
Gene: NPHP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 224989
ClinVar RCV Id: RCV000210561 RCV002517434
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_694972.3:p.Asp640Glu
CA358008
NM_153240.5:c.1920T>G
CA354582500
NM_153240.5:c.1920T>A