ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096949
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56432
ClinVar RCV Id:
RCV000049845
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Gly412Cys
CA250109
NM_004646.4:c.1234G>T