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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:
CA2428353401
Gene: WAS
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.48681716_48681724delinsCCTGATCAG , CM000685.2:g.48681716_48681724delinsCCTGATCAG
GRCh38
NC_000023.10:g.48540105_48540113delinsCCTGATCAG , CM000685.1:g.48540105_48540113delinsCCTGATCAG
GRCh37
NC_000023.9:g.48425049_48425057delinsCCTGATCAG
NCBI36
NG_007877.1:g.2920_2928delinsCCTGATCAG , LRG_125:g.2920_2928delinsCCTGATCAG
Transcript Alleles
HGVS
Amino-acid change
ENST00000698625.1:c.-34-2104_-34-2096delinsCCTGATCAG
ENSP00000513844.1:n.-34-2104_-34-2096delinsCCTGATCAG
ENST00000450772.5:c.-130-1552_-130-1544delinsCCTGATCAG
ENSP00000410537.1:n.-130-1552_-130-1544delinsCCTGATCAG
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