ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096974
Gene: NPHS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
71107
ClinVar RCV:
RCV000049881
ClinVar Variation:
56468
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Ile742Thr
CA250176
NM_004646.4:c.2225T>C