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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:
CA2739276454
Gene: LDLR-AS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2804877
ClinVar RCV Id:
RCV003741636
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.11089319del , CM000681.2:g.11089319del
GRCh38
NC_000019.9:g.11199995del , CM000681.1:g.11199995del
GRCh37
NC_000019.8:g.11060995del
NCBI36
NG_009060.1:g.4939del , LRG_274:g.4939del
Transcript Alleles
HGVS
Amino-acid change
NR_163945.1:n.341del
Search 100 bp 5'
Search 100 bp 3'