ClinGen Allele Registry
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Canonical Allele Identifier:
PA658811084
Gene: NPHP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499260
ClinVar RCV Id:
RCV000592208
RCV001088286
RCV001849405
RCV003151110
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055917.1:p.Pro1328Leu
CA553402
NM_015102.5:c.3983C>T