Canonical Allele Identifier: PA645468996
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_000263.2:p.Arg546Lys
CA1827002
NM_000272.5:c.1637G>A