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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:
CA2240010127
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.86677114_86677124delinsAAATCAGAAAC , CM000678.2:g.86677114_86677124delinsAAATCAGAAAC
GRCh38
NC_000016.9:g.86710720_86710730delinsAAATCAGAAAC , CM000678.1:g.86710720_86710730delinsAAATCAGAAAC
GRCh37
NC_000016.8:g.85268221_85268231delinsAAATCAGAAAC
NCBI36
Search 100 bp 5'
Search 100 bp 3'