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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:
PA2825320318
Gene: TPM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1472862
ClinVar RCV Id:
RCV001977264
RCV003315264
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001018005.1:p.Glu98Lys
CA392720843
NM_001018005.2:c.292G>A