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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:
PA2828052152
Gene: APC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231924
ClinVar RCV Id:
RCV000223120
RCV002515645
RCV003488475
RCV003534529
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341834.1:p.Arg254Ser
CA10578311
NM_001354905.2:c.760C>A