ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097221
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56462
ClinVar RCV Id:
RCV000049875
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Val709Gly
CA250167
NM_004646.4:c.2126T>G