ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826800314
Gene: NPHP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
501537
ClinVar RCV Id:
RCV000597374
RCV001470492
RCV004530710
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278522.1:p.Pro263Arg
CA554151
NM_001291593.2:c.788C>G