ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097073
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56424
ClinVar RCV Id:
RCV000049837
RCV001853052
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Pro368Leu
CA250094
NM_004646.4:c.1103C>T