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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:
CA2642003163
Gene:
Linked Data
gnomAD v4:
18-59084821-CGT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.59084825_59084826del , CM000680.2:g.59084825_59084826del
GRCh38
NC_000018.9:g.56752057_56752058del , CM000680.1:g.56752057_56752058del
GRCh37
NC_000018.8:g.54903037_54903038del
NCBI36
Search 100 bp 5'
Search 100 bp 3'