ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826800603
Gene: NPHP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500975
ClinVar RCV Id:
RCV000597836
RCV000638099
RCV000765245
RCV001096629
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278522.1:p.Ala585Thr
CA553715
NM_001291593.2:c.1753G>A