ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645417139
Gene: NKX2-5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
410967
ClinVar RCV Id:
RCV000477547
RCV000660565
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004378.1:p.Pro275Leu
CA16612032
NM_004387.3:c.824C>T