ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096808
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56476
ClinVar RCV Id:
RCV000049889
RCV001853054
RCV003415818
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Arg831Cys
CA250191
NM_004646.4:c.2491C>T