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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:
PA2829694011
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
462631
ClinVar RCV Id:
RCV000532340
RCV003157708
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Gly1303Val
CA10593862
NM_007297.4:c.3908G>T