ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645375307
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
259506
ClinVar RCV Id:
RCV000248913
RCV000905150
RCV001272298
RCV002294149
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Thr233Ala
CA9390698
NM_004646.4:c.697A>G