ClinGen Allele Registry
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Canonical Allele Identifier:
PA645502515
Gene: NPHP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
297804
ClinVar RCV Id:
RCV000330012
RCV000384597
RCV000593971
RCV001093852
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055917.1:p.Asp853Tyr
CA554063
NM_015102.5:c.2557G>T