ClinGen Allele Registry
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Canonical Allele Identifier:
PA658818172
Gene: NKX2-5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000620703
RCV001756005
RCV003619713
ClinVar Variation:
519292
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004378.1:p.His319Arg
CA362160716
NM_004387.3:c.956A>G