ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658831749
Gene: NPHS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
558528
ClinVar RCV Id:
RCV000674814
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055440.1:p.Lys377_Lys378del
CA658822853
NM_014625.4:c.1129_1134del