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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:
CA1057439558
Gene: LINC02043
HGNC
NCBI
Linked Data
dbSNP Id:
rs1722609701
gnomAD v3:
3-186812705-T-TA
gnomAD v4:
3-186812705-T-TA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.186812706dup , CM000665.2:g.186812706dup
GRCh38
NC_000003.11:g.186530495dup , CM000665.1:g.186530495dup
GRCh37
NC_000003.10:g.188013189dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_125409.1:n.564-558dup
Search 100 bp 5'
Search 100 bp 3'