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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:
PA2825017868
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_000029.2:p.Gly972Ser
CA033918
NM_000038.6:c.2914G>A