ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095082
Gene: NPHS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000169033
RCV000517983
RCV001273618
RCV001328093
RCV003407626
ClinVar Variation:
188730
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055440.1:p.Arg168His
CA199046
NM_014625.4:c.503G>A