Canonical Allele Identifier: PA2828479742
Gene: NPHP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 288369
ClinVar RCV Id: RCV000363080 RCV000765499 RCV001084490 RCV004535410
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361185.1:p.Met267Thr
CA1827217
NM_001374256.1:c.800T>C