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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:
PA2827955144
Gene: APC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
495375
ClinVar RCV Id:
RCV000586621
RCV003538395
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341826.1:p.Gly277Ala
CA16023079
NM_001354897.2:c.830G>C