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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:
CA1149396968
Gene:
Linked Data
dbSNP Id:
rs1659182572
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.2036484_2036496del , CM000663.2:g.2036484_2036496del
GRCh38
NC_000001.10:g.1967923_1967935del , CM000663.1:g.1967923_1967935del
GRCh37
NC_000001.9:g.1957783_1957795del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_946823.1:n.712_724del
XR_001737845.2:n.715_727del
XR_946823.3:n.715_727del
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