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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:
CA2049072491
Gene:
Linked Data
dbSNP Id:
rs1868335536
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.80069246_80069247insACAA , CM000674.2:g.80069246_80069247insACAA
GRCh38
NC_000012.11:g.80463026_80463027insACAA , CM000674.1:g.80463026_80463027insACAA
GRCh37
NC_000012.10:g.78987157_78987158insACAA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_945140.1:n.456+8064_456+8065insACAA
XR_945141.1:n.1758+8064_1758+8065insACAA
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