Canonical Allele Identifier: PA2828480031
Gene: NPHP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 330730
ClinVar RCV Id: RCV000261599 RCV000319080 RCV000591051 RCV000385395 RCV001549752 RCV004544605 RCV001094595
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361185.1:p.Arg489Lys
CA1827002
NM_001374256.1:c.1466G>A