ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499278780
Gene: NPHS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1006647
ClinVar RCV Id:
RCV001303724
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055440.1:p.Glu85Lys
CA1267289
NM_014625.4:c.253G>A