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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:
CA625424227
Gene:
Linked Data
dbSNP Id:
rs1169566134
gnomAD v2:
17-27703353-TAA-T
gnomAD v3:
17-29376335-TAA-T
gnomAD v4:
17-29376335-TAA-T
MyVariant Identifiers:
chr17:g.27703354_27703355del (hg19)
chr17:g.29376336_29376337del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.29376336_29376337del , CM000679.2:g.29376336_29376337del
GRCh38
NC_000017.10:g.27703354_27703355del , CM000679.1:g.27703354_27703355del
GRCh37
NC_000017.9:g.24727480_24727481del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XM_011525588.1:c.1008-6032_1008-6031del
XP_011523890.1:n.1008-6032_1008-6031del
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