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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:
PA2828018625
Gene: APC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
568446
ClinVar RCV Id:
RCV003534575
RCV003303117
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341835.1:p.Gly689Ser
CA033918
NM_001354906.2:c.2065G>A