ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825965670
Gene: MECOM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157472.1:p.Thr1015Ile
CA2695839
NM_001164000.2:c.3044C>T