ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658818161
Gene: NKX2-5
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000644451
RCV002360590
ClinVar Variation:
536138
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004378.1:p.Ala219Thr
CA3563667
NM_004387.3:c.655G>A