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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:
PA2826869175
Gene: TPM2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12463
ClinVar RCV Id:
RCV000013279
RCV000128682
RCV001775067
RCV004532331
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001288155.1:p.Arg133Trp
CA122407
NM_001301226.2:c.397C>T