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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:
PA2827982976
Gene: APC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
233102
ClinVar RCV Id:
RCV000214194
RCV000590719
RCV003535578
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341829.1:p.Leu397Phe
CA10578315
NM_001354900.2:c.1189C>T