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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:
CA2543616138
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.43749490_43749491del , CM000685.2:g.43749490_43749491del
GRCh38
NC_000023.10:g.43608737_43608738del , CM000685.1:g.43608737_43608738del
GRCh37
NC_000023.9:g.43493681_43493682del
NCBI36
Search 100 bp 5'
Search 100 bp 3'