ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA102533
Gene: EPOR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
268130
ClinVar RCV Id:
RCV000258855
RCV001258311
RCV000953082
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000112.1:p.Pro488Ser
CA9210508
NM_000121.4:c.1462C>T