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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:
CA2507689788
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.3256968dup , CM000678.2:g.3256968dup
GRCh38
NC_000016.9:g.3306968dup , CM000678.1:g.3306968dup
GRCh37
NC_000016.8:g.3246969dup
NCBI36
NG_007871.1:g.4660dup , LRG_190:g.4660dup
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