ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826842067
Gene: NPHS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000409446
RCV001328161
RCV001364437
RCV002271493
RCV003352850
ClinVar Variation:
370718
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001284504.1:p.Ala229Val
CA1267067
NM_001297575.2:c.686C>T