ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828210877
Gene: MECOM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001353403.1:p.Thr691Ile
CA2695839
NM_001366474.2:c.2072C>T