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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:
PA2826765362
Gene: SMARCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
419659
ClinVar RCV Id:
RCV000483415
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001276325.1:p.Gln1155Pro
CA16618823
NM_001289396.1:c.3464A>C