ClinGen Allele Registry
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Canonical Allele Identifier:
PA096731
Gene: NPHS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
71066
ClinVar RCV:
RCV000049840
RCV001380443
ClinVar Variation:
56427
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Arg379Trp
CA250101
NM_004646.4:c.1135C>T