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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:
CA934406391
Gene: LSP1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1847395237
gnomAD v3:
11-1852882-C-G
gnomAD v4:
11-1852882-C-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.1852882C>G , CM000673.2:g.1852882C>G
GRCh38
NC_000011.9:g.1874112C>G , CM000673.1:g.1874112C>G
GRCh37
NC_000011.8:g.1830688C>G
NCBI36
NG_011509.1:g.4913C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000676039.1:c.-192-71C>G
ENSP00000502383.1:n.-192-71C>G
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