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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:
PA2825320323
Gene: TPM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2720872
ClinVar RCV Id:
RCV003587044
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001018005.1:p.Arg101Cys
CA029008
NM_001018005.2:c.301C>T