ClinGen Allele Registry
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Canonical Allele Identifier:
PA117464
Gene: NPHS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000005701
RCV000157404
RCV000576535
RCV000590501
RCV000855599
RCV001328158
RCV002293978
RCV003362660
RCV003398449
ClinVar Variation:
5370
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055440.1:p.Arg229Gln
CA117462
NM_014625.4:c.686G>A