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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:
PA2573058557
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
51995
ClinVar RCV Id:
RCV000044826
RCV000083121
RCV000162633
RCV001174723
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Lys2013Glu
CA023559
NM_000059.4:c.6037A>G