ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096779
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56469
ClinVar RCV Id:
RCV000049882
RCV000797708
RCV001328086
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Arg743Cys
CA250178
NM_004646.4:c.2227C>T