ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826026690
Gene: NKX2-5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159647.1:p.Ala76Glu
CA362163440
NM_001166175.2:c.227C>A