ClinGen Allele Registry
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Canonical Allele Identifier:
PA658810993
Gene: NPHP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499988
ClinVar RCV Id:
RCV000595006
RCV000862361
RCV001097015
RCV001097016
RCV004543360
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055917.1:p.Arg674Leu
CA554299
NM_015102.5:c.2021G>T