ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096742
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56430
ClinVar RCV Id:
RCV000049843
RCV001040489
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Arg407Trp
CA250107
NM_004646.4:c.1219C>T