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