ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA097151
Gene: NPHS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
71086
ClinVar RCV:
RCV000049860
RCV000487117
ClinVar Variation:
56447
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Ser572Asn
CA250136
NM_004646.4:c.1715G>A