ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3085875356
Gene: EPOR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000112.1:p.Trp439Leu
CA305342574
NM_000121.4:c.1316G>T