ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826800659
Gene: NPHP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195828
ClinVar RCV Id:
RCV000176491
RCV000862808
RCV003224190
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278522.1:p.Pro639Ser
CA242462
NM_001291593.2:c.1915C>T