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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
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Canonical Allele Identifier:
CA2428354105
Gene: WAS
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.48683709_48683723delinsGCCCACCAAGGGGCC , CM000685.2:g.48683709_48683723delinsGCCCACCAAGGGGCC
GRCh38
NC_000023.10:g.48542098_48542112delinsGCCCACCAAGGGGCC , CM000685.1:g.48542098_48542112delinsGCCCACCAAGGGGCC
GRCh37
NC_000023.9:g.48427042_48427056delinsGCCCACCAAGGGGCC
NCBI36
NG_007877.1:g.4913_4927delinsGCCCACCAAGGGGCC , LRG_125:g.4913_4927delinsGCCCACCAAGGGGCC
Transcript Alleles
HGVS
Amino-acid change
ENST00000698625.1:c.-34-111_-34-97delinsGCCCACCAAGGGGCC
ENSP00000513844.1:n.-34-111_-34-97delinsGCCCACCAAGGGGCC
ENST00000450772.5:c.-34-111_-34-97delinsGCCCACCAAGGGGCC
ENSP00000410537.1:n.-34-111_-34-97delinsGCCCACCAAGGGGCC
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