ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA096940
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56418
ClinVar RCV Id:
RCV000049831
RCV003441734
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Gly347Glu
CA250081
NM_004646.4:c.1040G>A