ClinGen Allele Registry
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Canonical Allele Identifier:
PA645417141
Gene: NKX2-5
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000434919
RCV000644446
RCV002429460
RCV003224281
ClinVar Variation:
392351
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004378.1:p.Ala276Gly
CA3563628
NM_004387.3:c.827C>G