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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:
PA915972872
Gene: ACTN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
42030
ClinVar RCV Id:
RCV000034868
RCV003556110
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123477.1:p.Arg752Gln
CA130964
NM_001130005.2:c.2255G>A