Canonical Allele Identifier: PA2830528763
Gene: NPHP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 330730
ClinVar RCV Id: RCV000261599 RCV000319080 RCV000591051 RCV000385395 RCV001549752 RCV004544605 RCV001094595
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_997064.2:p.Arg545Lys
CA1827002
NM_207181.4:c.1634G>A