ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3073133505
Gene: ESR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000116.2:p.Pro333Leu
CA366213470
NM_000125.4:c.998C>T