ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825367244
Gene: NPNT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004075220
ClinVar Variation:
2211604
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001028219.1:p.Gly516Val
CA3034542
NM_001033047.3:c.1547G>T