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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:
PA2828015644
Gene: APC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
482411
ClinVar RCV Id:
RCV000572436
RCV003537151
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341835.1:p.Asp208Asn
CA16024524
NM_001354906.2:c.622G>A