ClinGen Allele Registry
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Canonical Allele Identifier:
PA645417143
Gene: NKX2-5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
410969
ClinVar RCV Id:
RCV000023022
RCV000462724
RCV002374804
RCV002489071
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004378.1:p.Asn291del
CA16611805
NM_004387.3:c.871_873del