Canonical Allele Identifier: PA645487453
Gene: NPHP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 343382
ClinVar RCV Id: RCV000283901 RCV000338978 RCV000403658 RCV000727224 RCV000764465 RCV001094790
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_694972.3:p.Gln961Glu
CA2621908
NM_153240.5:c.2881C>G