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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:
CA2049072486
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.80069240_80069243delinsCTTG , CM000674.2:g.80069240_80069243delinsCTTG
GRCh38
NC_000012.11:g.80463020_80463023delinsCTTG , CM000674.1:g.80463020_80463023delinsCTTG
GRCh37
NC_000012.10:g.78987151_78987154delinsCTTG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_945140.1:n.456+8058_456+8061delinsCTTG
XR_945141.1:n.1758+8058_1758+8061delinsCTTG
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