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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:
PA1139681526
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
38131
ClinVar RCV Id:
RCV000031713
RCV000045366
RCV000131687
RCV000212266
RCV000785230
RCV001171449
RCV001358381
RCV003473214
RCV004541048
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Arg2659Lys
CA025368
NM_000059.4:c.7976G>A