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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:
PA168207
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
37465
ClinVar RCV Id:
RCV000031046
RCV000131470
RCV000173843
RCV000167808
RCV000724699
RCV000735515
RCV001353498
RCV004554619
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Thr790Ala
CA001580
NM_007294.4:c.2368A>G