ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830143263
Gene: EGLN2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_444274.1:p.Ala108Thr
CA9452189
NM_053046.4:c.322G>A