ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA248631
Gene: RUNX1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001116079.1:p.Ala129Glu
CA248628
NM_001122607.2:c.386C>A