ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826842060
Gene: NPHS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000005700
RCV000681927
RCV003352747
RCV003993738
ClinVar Variation:
5369
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001284504.1:p.Arg223Trp
CA117460
NM_001297575.2:c.667C>T