ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573085698
Gene: NKX2-5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004378.1:p.Asp226Gly
CA132259055
NM_004387.3:c.677A>G