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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:
PA2829722137
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1735456
ClinVar RCV Id:
RCV002364083
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Glu1282Gln
CA10594278
NM_007300.4:c.3844G>C