ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580308766
Gene: NKX2-5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004378.1:p.Lys183Gln
CA362161643
NM_004387.3:c.547A>C