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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:
PA2829693386
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186252
ClinVar RCV Id:
RCV000165814
RCV000203862
RCV000411367
RCV000759525
RCV001170594
RCV001193747
RCV001354503
RCV002485026
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser1206Cys
CA002409
NM_007297.4:c.3617C>G