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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:
CA2770189431
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.18842272_18842273dup , CM000668.2:g.18842272_18842273dup
GRCh38
NC_000006.11:g.18842503_18842504dup , CM000668.1:g.18842503_18842504dup
GRCh37
NC_000006.10:g.18950482_18950483dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'