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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:
PA2828186044
Gene: TPM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
31882
ClinVar RCV Id:
RCV000024578
RCV000208146
RCV000054795
RCV000526765
RCV000578109
RCV003149576
RCV002345253
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352708.1:p.Glu192Lys
CA018196
NM_001365779.1:c.574G>A