ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573236084
Gene: NKX2-5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1437112
ClinVar RCV Id:
RCV001955420
RCV002334934
RCV002275291
RCV002484679
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004378.1:p.Ala165Val
CA132259258
NM_004387.3:c.494C>T