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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:
CA2611933803
Gene: LSP1
HGNC
NCBI
Linked Data
gnomAD v4:
11-1852870-GTCACC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.1852871_1852875del , CM000673.2:g.1852871_1852875del
GRCh38
NC_000011.9:g.1874101_1874105del , CM000673.1:g.1874101_1874105del
GRCh37
NC_000011.8:g.1830677_1830681del
NCBI36
NG_011509.1:g.4902_4906del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000676039.1:c.-192-82_-192-78del
ENSP00000502383.1:n.-192-82_-192-78del
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