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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:
CA2507024893
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.67350181del , CM000685.2:g.67350181del
GRCh38
NC_000023.10:g.66570023del , CM000685.1:g.66570023del
GRCh37
NC_000023.9:g.66486748del
NCBI36
Search 100 bp 5'
Search 100 bp 3'