Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA645373259

Gene: LDLR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 430741

ClinVar RCV Id: RCV000495930

MyVariant Identifiers: chr19:g.11199996_11200135del (hg19) chr19:g.11089320_11089459del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11089320_11089459del , CM000681.2:g.11089320_11089459del	GRCh38
NC_000019.9:g.11199996_11200135del , CM000681.1:g.11199996_11200135del	GRCh37
NC_000019.8:g.11060996_11061135del	NCBI36
NG_009060.1:g.4940_5079del , LRG_274:g.4940_5079del

Transcript Alleles

HGVS	Amino-acid change
NR_163945.1:n.202_341del

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