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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:
PA2580139375
Gene: ACTB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1695182
ClinVar RCV Id:
RCV002263432
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092.1:p.Val159Ala
CA366703447
NM_001101.5:c.476T>C