ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645375181
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
225424
ClinVar RCV Id:
RCV000490334
RCV000903298
RCV002271466
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Ala22Val
CA9390924
NM_004646.4:c.65C>T