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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:
CA2556000338
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127505396_127505400del , CM000670.2:g.127505396_127505400del
GRCh38
NC_000008.10:g.128517641_128517645del , CM000670.1:g.128517641_128517645del
GRCh37
NC_000008.9:g.128586823_128586827del
NCBI36
Search 100 bp 5'
Search 100 bp 3'