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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:
CA370469053
Gene: LPL
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr8:g.19813409C>T (hg19)
chr8:g.19955898C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.19955898C>T , CM000670.2:g.19955898C>T
GRCh38
NC_000008.10:g.19813409C>T , CM000670.1:g.19813409C>T
GRCh37
NC_000008.9:g.19857689C>T
NCBI36
NG_008855.1:g.21828C>T
NG_008855.2:g.59182C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000650287.1:c.833C>T
MANE Select
ENSP00000497642.1:p.Ser278Phe
ENST00000311322.8:c.833C>T
ENSP00000309757.6:p.Ser278Phe
NM_000237.2:c.833C>T
NP_000228.1:p.Ser278Phe
NM_000237.3:c.833C>T
MANE Select
NP_000228.1:p.Ser278Phe
Search 100 bp 5'
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