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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:
CA2740094969
Gene: LPL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3004006
ClinVar RCV Id:
RCV003863581
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.19955834dup , CM000670.2:g.19955834dup
GRCh38
NC_000008.10:g.19813345dup , CM000670.1:g.19813345dup
GRCh37
NC_000008.9:g.19857625dup
NCBI36
NG_008855.1:g.21764dup
NG_008855.2:g.59118dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000650287.1:c.776-7dup
MANE Select
ENSP00000497642.1:n.776-7dup
ENST00000311322.8:c.776-7dup
ENSP00000309757.6:n.776-7dup
NM_000237.2:c.776-7dup
NP_000228.1:n.776-7dup
NM_000237.3:c.776-7dup
MANE Select
NP_000228.1:n.776-7dup
Search 100 bp 5'
Search 100 bp 3'