ClinGen Allele Registry
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Canonical Allele Identifier:
PA094413
Gene: NKX2-5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9011
ClinVar RCV Id:
RCV000009576
RCV000525369
RCV002362574
RCV002482847
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004378.1:p.Ala219Val
CA248607
NM_004387.3:c.656C>T