ClinGen Allele Registry
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Canonical Allele Identifier:
PA250233
Gene: NPHS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000049914
ClinVar Variation:
56501
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Gly1161Val
CA250231
NM_004646.4:c.3482G>T