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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:
PA2829710635
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
651964
ClinVar RCV Id:
RCV000807420
RCV001178400
RCV001077366
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Gly1824Cys
CA10590655
NM_007300.4:c.5470G>T