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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:
PA111316
Gene: ACTG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
18319
ClinVar RCV Id:
RCV000019984
RCV001851957
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186883.1:p.Thr278Ile
CA258162
NM_001199954.3:c.833C>T