ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826800779
Gene: NPHP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286996
ClinVar RCV Id:
RCV001080139
RCV000395711
RCV004535377
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278522.1:p.Arg771His
CA553438
NM_001291593.2:c.2312G>A