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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:
PA2829706706
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
37613
ClinVar RCV Id:
RCV000031194
RCV000048673
RCV000130704
RCV000589264
RCV001079703
RCV001354846
RCV004554631
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Ser509Cys
CA003045
NM_007298.3:c.1525A>T