ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826800956
Gene: NPHP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281976
ClinVar RCV Id:
RCV000284712
RCV001087002
RCV003165723
RCV004542995
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278523.1:p.Thr111Ala
CA554344
NM_001291594.2:c.331A>G