ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA126694
Gene: ESR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001116214.1:p.Cys447Ala
NM_001122742.2:c.1339_1340delinsGC