Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA126694

Gene: ESR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16590

ClinVar RCV Id: RCV000018058

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001116214.1:p.Cys447Ala	CA126692 NM_001122742.2:c.1339_1340delinsGC