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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:
CA2054318190
Gene: LUM
HGNC
NCBI
Linked Data
dbSNP Id:
rs1880064955
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.91107223del , CM000674.2:g.91107223del
GRCh38
NC_000012.11:g.91501000del , CM000674.1:g.91501000del
GRCh37
NC_000012.10:g.90025131del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000266718.5:c.862+895del
MANE Select
ENSP00000266718.4:n.862+895del
ENST00000266718.4:c.862+895del
ENSP00000266718.4:n.862+895del
ENST00000546642.1:n.612+895del
ENST00000548071.1:n.255+895del
NM_002345.3:c.862+895del
NP_002336.1:n.862+895del
NM_002345.4:c.862+895del
MANE Select
NP_002336.1:n.862+895del
Search 100 bp 5'
Search 100 bp 3'