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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:
PA2825016473
Gene: APC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
469735
ClinVar RCV Id:
RCV001014782
RCV003742599
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000029.2:p.Ala740Thr
CA16026193
NM_000038.6:c.2218G>A