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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:
CA2642003164
Gene:
Linked Data
gnomAD v4:
18-59084835-TG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.59084837del , CM000680.2:g.59084837del
GRCh38
NC_000018.9:g.56752069del , CM000680.1:g.56752069del
GRCh37
NC_000018.8:g.54903049del
NCBI36
Search 100 bp 5'
Search 100 bp 3'