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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:
PA2573057237
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
51805
ClinVar RCV Id:
RCV000239003
RCV000220016
RCV000506327
RCV001301980
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Gly173Cys
CA021603
NM_000059.4:c.517G>T