ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580307120
Gene: NPHS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002294638
ClinVar Variation:
1712383
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Pro838Ser
CA405392247
NM_004646.4:c.2512C>T