Canonical Allele Identifier: PA916017813
Gene: NPHP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 502319
ClinVar RCV Id: RCV000765247 RCV001098353 RCV000592906 RCV001098354 RCV001054486
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278523.1:p.Ala547Thr
CA553770
NM_001291594.2:c.1639G>A