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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:
PA2827992857
Gene: APC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418611
ClinVar RCV Id:
RCV000480278
RCV000580908
RCV002526522
RCV004002260
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341830.1:p.Tyr678His
CA031174
NM_001354901.2:c.2032T>C