ClinGen Allele Registry
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Canonical Allele Identifier:
PA645375652
Gene: NPHS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000251305
RCV000669627
RCV000888863
RCV002294145
ClinVar Variation:
259498
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Arg1140Ser
CA9389760
NM_004646.4:c.3418C>A