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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:
PA211260
Gene: SMARCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30008
ClinVar RCV Id:
RCV000022908
RCV000059683
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003061.3:p.Arg1213Trp
CA211259
NM_003070.5:c.3637C>T