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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:
CA692339884
Gene:
Linked Data
dbSNP Id:
rs1198442353
MyVariant Identifiers:
chr12:g.80463021_80463023del (hg19)
chr12:g.80069241_80069243del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.80069244_80069246del , CM000674.2:g.80069244_80069246del
GRCh38
NC_000012.11:g.80463024_80463026del , CM000674.1:g.80463024_80463026del
GRCh37
NC_000012.10:g.78987155_78987157del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_945140.1:n.456+8062_456+8064del
XR_945141.1:n.1758+8062_1758+8064del
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