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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:
CA2059285002
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.102501352_102501353delinsTA , CM000674.2:g.102501352_102501353delinsTA
GRCh38
NC_000012.11:g.102895130_102895131delinsTA , CM000674.1:g.102895130_102895131delinsTA
GRCh37
NC_000012.10:g.101419260_101419261delinsTA
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001749289.1:n.1952+17464_1952+17465delinsTA
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Search 100 bp 3'