ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826800912
Gene: NPHP4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
489304
ClinVar RCV:
RCV000598206
RCV001257064
RCV001334815
ClinVar Variation:
497880
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278523.1:p.Arg25Gln
CA554517
NM_001291594.2:c.74G>A