×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA10583771
Gene: LDLR-AS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237861
ClinVar RCV Id:
RCV001828107
RCV003128607
dbSNP Id:
rs878854023
MyVariant Identifiers:
chr19:g.11200037C>T (hg19)
chr19:g.11089361C>T (hg38)
PubMed:
PMID:16250003
ERepo:
CA10583771/MONDO:0007750/013
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.11089361C>T , CM000681.2:g.11089361C>T
GRCh38
NC_000019.9:g.11200037C>T , CM000681.1:g.11200037C>T
GRCh37
NC_000019.8:g.11061037C>T
NCBI36
NG_009060.1:g.4981C>T , LRG_274:g.4981C>T
Transcript Alleles
HGVS
Amino-acid change
NR_163945.1:n.299G>A
Search 100 bp 5'
Search 100 bp 3'