ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573236036
Gene: NKX2-5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1439076
ClinVar RCV Id:
RCV001934418
RCV002484696
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004378.1:p.Lys124Glu
CA3563714
NM_004387.3:c.370A>G