ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499267503
Gene: NKX2-5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001322934
RCV002431920
RCV002476516
ClinVar Variation:
1022958
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004378.1:p.Ala83Gly
CA362163399
NM_004387.3:c.248C>G