ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580308808
Gene: NKX2-5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2499268
ClinVar RCV Id:
RCV003221569
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004378.1:p.Leu245Arg
CA362161269
NM_004387.3:c.734T>G