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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:
CA682822566
Gene:
Linked Data
dbSNP Id:
rs1268060656
gnomAD v3:
12-102501303-AATCAATC-A
gnomAD v4:
12-102501303-AATCAATC-A
MyVariant Identifiers:
chr12:g.102895082_102895088del (hg19)
chr12:g.102501304_102501310del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.102501305_102501311del , CM000674.2:g.102501305_102501311del
GRCh38
NC_000012.11:g.102895083_102895089del , CM000674.1:g.102895083_102895089del
GRCh37
NC_000012.10:g.101419213_101419219del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001749289.1:n.1952+17417_1952+17423del
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