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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:
CA2693642756
Gene: WAS
HGNC
NCBI
Linked Data
gnomAD v4:
X-48683681-CCCAAGCTCAGCCTAA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.48683683_48683697del , CM000685.2:g.48683683_48683697del
GRCh38
NC_000023.10:g.48542072_48542086del , CM000685.1:g.48542072_48542086del
GRCh37
NC_000023.9:g.48427016_48427030del
NCBI36
NG_007877.1:g.4887_4901del , LRG_125:g.4887_4901del
Transcript Alleles
HGVS
Amino-acid change
ENST00000698625.1:c.-34-137_-34-123del
ENSP00000513844.1:n.-34-137_-34-123del
ENST00000450772.5:c.-34-137_-34-123del
ENSP00000410537.1:n.-34-137_-34-123del
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