ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA117453
Gene: NPHS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5365
ClinVar RCV Id:
RCV000005696
RCV000588524
RCV001276841
RCV002293977
RCV003150926
RCV003407281
RCV003914811
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055440.1:p.Pro20Leu
CA117451
NM_014625.4:c.59C>T