Canonical Allele Identifier: PA916074047
Gene: NPHP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167377
ClinVar RCV Id: RCV000153590 RCV000195676 RCV000338020 RCV000372811 RCV000515315 RCV001094558 RCV001535425
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_997064.2:p.Tyr78His
CA234415
NM_207181.4:c.232T>C