ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826790257
Gene: ESR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430713
ClinVar RCV Id:
RCV000495838
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278170.1:p.Arg393His
CA16609296
NM_001291241.2:c.1178G>A