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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:
CA1664473963
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.132295797_132295801delinsAAAAG , CM000668.2:g.132295797_132295801delinsAAAAG
GRCh38
NC_000006.11:g.132616936_132616940delinsAAAAG , CM000668.1:g.132616936_132616940delinsAAAAG
GRCh37
NC_000006.10:g.132658629_132658633delinsAAAAG
NCBI36
Search 100 bp 5'
Search 100 bp 3'