ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA250091
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000049835
RCV003556130
ClinVar Variation:
56422
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Arg367His
CA250089
NM_004646.4:c.1100G>A