ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645375184
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
328883
ClinVar RCV Id:
RCV000370301
RCV000889383
RCV001828323
RCV002521211
RCV002294275
RCV003922400
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Glu39Lys
CA9390910
NM_004646.4:c.115G>A