Canonical Allele Identifier: PA2826800220
Gene: NPHP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 499066
ClinVar RCV Id: RCV000596610 RCV001002694 RCV001416064 RCV002286526
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278522.1:p.Pro164Ser
CA554298
NM_001291593.2:c.490C>T