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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.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825586157
Gene: ESR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16593
ClinVar RCV Id:
RCV000018061
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001116213.1:p.Val364Glu
CA126698
NM_001122741.2:c.1091T>A