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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:
CA2049072483
Gene:
Linked Data
dbSNP Id:
rs1868335442
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.80069236_80069244dup , CM000674.2:g.80069236_80069244dup
GRCh38
NC_000012.11:g.80463016_80463024dup , CM000674.1:g.80463016_80463024dup
GRCh37
NC_000012.10:g.78987147_78987155dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_945140.1:n.456+8054_456+8062dup
XR_945141.1:n.1758+8054_1758+8062dup
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