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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:
CA370469266
Gene: LPL
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr8:g.19813505G>C (hg19)
chr8:g.19955994G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.19955994G>C , CM000670.2:g.19955994G>C
GRCh38
NC_000008.10:g.19813505G>C , CM000670.1:g.19813505G>C
GRCh37
NC_000008.9:g.19857785G>C
NCBI36
NG_008855.1:g.21924G>C
NG_008855.2:g.59278G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000650287.1:c.929G>C
MANE Select
ENSP00000497642.1:p.Cys310Ser
ENST00000311322.8:c.929G>C
ENSP00000309757.6:p.Cys310Ser
NM_000237.2:c.929G>C
NP_000228.1:p.Cys310Ser
NM_000237.3:c.929G>C
MANE Select
NP_000228.1:p.Cys310Ser
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