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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:
CA2428354104
Gene: WAS
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.48683707_48683720delinsAGGCCCACCAAGGG , CM000685.2:g.48683707_48683720delinsAGGCCCACCAAGGG
GRCh38
NC_000023.10:g.48542096_48542109delinsAGGCCCACCAAGGG , CM000685.1:g.48542096_48542109delinsAGGCCCACCAAGGG
GRCh37
NC_000023.9:g.48427040_48427053delinsAGGCCCACCAAGGG
NCBI36
NG_007877.1:g.4911_4924delinsAGGCCCACCAAGGG , LRG_125:g.4911_4924delinsAGGCCCACCAAGGG
Transcript Alleles
HGVS
Amino-acid change
ENST00000698625.1:c.-34-113_-34-100delinsAGGCCCACCAAGGG
ENSP00000513844.1:n.-34-113_-34-100delins...
ENST00000450772.5:c.-34-113_-34-100delinsAGGCCCACCAAGGG
ENSP00000410537.1:n.-34-113_-34-100delins...
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