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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:
CA2428353406
Gene: WAS
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.48681721_48681724delinsTCAG , CM000685.2:g.48681721_48681724delinsTCAG
GRCh38
NC_000023.10:g.48540110_48540113delinsTCAG , CM000685.1:g.48540110_48540113delinsTCAG
GRCh37
NC_000023.9:g.48425054_48425057delinsTCAG
NCBI36
NG_007877.1:g.2925_2928delinsTCAG , LRG_125:g.2925_2928delinsTCAG
Transcript Alleles
HGVS
Amino-acid change
ENST00000698625.1:c.-34-2099_-34-2096delinsTCAG
ENSP00000513844.1:n.-34-2099_-34-2096deli...
ENST00000450772.5:c.-130-1547_-130-1544delinsTCAG
ENSP00000410537.1:n.-130-1547_-130-1544de...
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