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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:
PA915999715
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
823882
ClinVar RCV Id:
RCV001020521
RCV001068024
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ala1175Thr
CA10594925
NM_007300.4:c.3523G>A