ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658829058
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
562342
ClinVar RCV Id:
RCV000681795
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Gly531Val
CA405400175
NM_004646.4:c.1592G>T