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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:
PA645454084
Gene: BAG3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283564
ClinVar RCV Id:
RCV000298402
RCV001216071
RCV002356375
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004272.2:p.Pro202Leu
CA5716378
NM_004281.4:c.605C>T