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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:
PA2825320889
Gene: TPM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
31901
ClinVar RCV Id:
RCV000024597
RCV000054794
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001018006.1:p.Lys248Glu
CA018317
NM_001018006.2:c.742A>G