ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645502483
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_055917.1:p.Thr623Ala
CA554344
NM_015102.5:c.1867A>G