ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826026827
Gene: NKX2-5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1022958
ClinVar RCV Id:
RCV001322934
RCV002431920
RCV002476516
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159648.1:p.Ala83Gly
CA362163399
NM_001166176.2:c.248C>G