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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:
CA2749012924
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.17427991_17427993del , CM000664.2:g.17427991_17427993del
GRCh38
NC_000002.11:g.17609258_17609260del , CM000664.1:g.17609258_17609260del
GRCh37
NC_000002.10:g.17472739_17472741del
NCBI36
Search 100 bp 5'
Search 100 bp 3'