ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096930
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56523
ClinVar RCV Id:
RCV000049936
RCV003320551
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Gly270Cys
CA250275
NM_004646.4:c.808G>T