ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097159
Gene: NPHS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
71104
ClinVar RCV:
RCV000049878
ClinVar Variation:
56465
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Ser724Cys
CA250171
NM_004646.4:c.2171C>G