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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:
CA305287237
Gene: LDLR-AS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
431505
ClinVar RCV Id:
RCV001856994
dbSNP Id:
rs376713337
gnomAD v3:
19-11089321-G-C
gnomAD v4:
19-11089321-G-C
MyVariant Identifiers:
chr19:g.11199997G>C (hg19)
chr19:g.11089321G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.11089321G>C , CM000681.2:g.11089321G>C
GRCh38
NC_000019.9:g.11199997G>C , CM000681.1:g.11199997G>C
GRCh37
NC_000019.8:g.11060997G>C
NCBI36
NG_009060.1:g.4941G>C , LRG_274:g.4941G>C
Transcript Alleles
HGVS
Amino-acid change
NR_163945.1:n.339C>G
Search 100 bp 5'
Search 100 bp 3'