Canonical Allele Identifier: PA101797
Gene: NPHP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 195996
ClinVar RCV Id: RCV000176699 RCV000814429 RCV001147809 RCV001147808 RCV001147810 RCV004537410
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_694972.3:p.Ser1252Arg
CA242727
NM_153240.5:c.3756C>G
CA354578282
NM_153240.5:c.3756C>A
CA354578285
NM_153240.5:c.3754A>C