ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097083
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56423
ClinVar RCV Id:
RCV000049836
RCV003556131
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Pro368Ser
CA250092
NM_004646.4:c.1102C>T