ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3063916774
Gene: EGLN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071334.1:p.Arg371Pro
CA345240187
NM_022051.3:c.1112G>C