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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:
PA2828052844
Gene: APC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
819305
ClinVar RCV Id:
RCV001011744
RCV002551749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341834.1:p.His332Arg
CA16024536
NM_001354905.2:c.995A>G