ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095072
Gene: NPHS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000169326
RCV002515194
ClinVar Variation:
188952
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055440.1:p.Arg168Cys
CA199102
NM_014625.4:c.502C>T