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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:
CA2505989749
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.223409849_223409852del , CM000664.2:g.223409849_223409852del
GRCh38
NC_000002.11:g.224274567_224274570del , CM000664.1:g.224274567_224274570del
GRCh37
NC_000002.10:g.223982811_223982814del
NCBI36
Search 100 bp 5'
Search 100 bp 3'