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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:
PA2573058506
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
648420
ClinVar RCV Id:
RCV000803141
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Lys241Thr
CA387759990
NM_000059.4:c.722A>C