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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:
PA2573058238
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
409562
ClinVar RCV Id:
RCV000469766
RCV000581542
RCV004000819
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Leu2015Ser
CA16614330
NM_000059.4:c.6044T>C