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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:
PA2827954539
Gene: APC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
843300
ClinVar RCV Id:
RCV002429613
RCV002552589
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341826.1:p.Leu97Arg
CA032801
NM_001354897.2:c.290T>G