ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826790256
Gene: ESR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278170.1:p.Glu379Gln
CA16602661
NM_001291241.2:c.1135G>C