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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:
CA2049072539
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.80069347_80069351delinsTAAAC , CM000674.2:g.80069347_80069351delinsTAAAC
GRCh38
NC_000012.11:g.80463127_80463131delinsTAAAC , CM000674.1:g.80463127_80463131delinsTAAAC
GRCh37
NC_000012.10:g.78987258_78987262delinsTAAAC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_945140.1:n.456+8165_456+8169delinsTAAAC
XR_945141.1:n.1758+8165_1758+8169delinsTAAAC
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