ClinGen Allele Registry
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Canonical Allele Identifier:
PA248630
Gene: RUNX1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
29510
ClinVar RCV:
RCV000015558
ClinVar Variation:
14471
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001001890.1:p.Ala129Glu
CA248628
NM_001001890.3:c.386C>A