ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742010296
Gene: NACC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2559372
ClinVar RCV Id:
RCV004329664
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_653254.1:p.Arg315His
CA5330033
NM_144653.5:c.944G>A