ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829034194
Gene: ESR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16590
ClinVar RCV Id:
RCV000018058
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372497.1:p.Cys447Ala
CA126692
NM_001385568.1:c.1339_1340delinsGC