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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:
CA2723163627
Gene: LSP1
HGNC
NCBI
Linked Data
dbSNP Id:
rs2133047804
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.1852784dup , CM000673.2:g.1852784dup
GRCh38
NC_000011.9:g.1874014dup , CM000673.1:g.1874014dup
GRCh37
NC_000011.8:g.1830590dup
NCBI36
NG_011509.1:g.4815dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000676039.1:c.-192-169dup
ENSP00000502383.1:n.-192-169dup
Search 100 bp 5'
Search 100 bp 3'