ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573086187
Gene: NPHS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
1291636
ClinVar RCV:
RCV001733389
RCV002488494
ClinVar Variation:
1301353
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Gly412Ser
CA9390496
NM_004646.4:c.1234G>A