ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645375504
Gene: NPHS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000397683
RCV000895246
ClinVar Variation:
328867
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Lys600Arg
CA9390317
NM_004646.4:c.1799A>G