ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825965351
Gene: MECOM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157471.1:p.Ala1031Glu
CA355063839
NM_001163999.2:c.3092C>A