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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:
CA2782826128
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.8012366dup , CM000671.2:g.8012366dup
GRCh38
NC_000009.11:g.8012366dup , CM000671.1:g.8012366dup
GRCh37
NC_000009.10:g.8002366dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'