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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:
CA2322759645
Gene: LDLR-AS1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.11089314_11089316delinsCTT , CM000681.2:g.11089314_11089316delinsCTT
GRCh38
NC_000019.9:g.11199990_11199992delinsCTT , CM000681.1:g.11199990_11199992delinsCTT
GRCh37
NC_000019.8:g.11060990_11060992delinsCTT
NCBI36
NG_009060.1:g.4934_4936delinsCTT , LRG_274:g.4934_4936delinsCTT
Transcript Alleles
HGVS
Amino-acid change
NR_163945.1:n.344_346delinsAAG
Search 100 bp 5'
Search 100 bp 3'