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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:
CA2781434001
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.98101589_98101590del , CM000670.2:g.98101589_98101590del
GRCh38
NC_000008.10:g.99113817_99113818del , CM000670.1:g.99113817_99113818del
GRCh37
NC_000008.9:g.99182993_99182994del
NCBI36
Search 100 bp 5'
Search 100 bp 3'