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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:
CA2054318678
Gene: LUM
HGNC
NCBI
Linked Data
dbSNP Id:
rs1205268580
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.91107332dup , CM000674.2:g.91107332dup
GRCh38
NC_000012.11:g.91501109dup , CM000674.1:g.91501109dup
GRCh37
NC_000012.10:g.90025240dup
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000266718.5:c.862+788dup
MANE Select
ENSP00000266718.4:n.862+788dup
ENST00000266718.4:c.862+788dup
ENSP00000266718.4:n.862+788dup
ENST00000546642.1:n.612+788dup
ENST00000548071.1:n.255+788dup
NM_002345.3:c.862+788dup
NP_002336.1:n.862+788dup
NM_002345.4:c.862+788dup
MANE Select
NP_002336.1:n.862+788dup
Search 100 bp 5'
Search 100 bp 3'