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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:
PA111239
Gene: ACTG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68787
ClinVar RCV Id:
RCV000059724
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186883.1:p.Ile122Val
CA219946
NM_001199954.3:c.364A>G