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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:
CA2553583705
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.102501310_102501312del , CM000674.2:g.102501310_102501312del
GRCh38
NC_000012.11:g.102895088_102895090del , CM000674.1:g.102895088_102895090del
GRCh37
NC_000012.10:g.101419218_101419220del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001749289.1:n.1952+17422_1952+17424del
Search 100 bp 5'
Search 100 bp 3'