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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:
CA919144076
Gene: LUM
HGNC
NCBI
Linked Data
dbSNP Id:
rs1565758651
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.91107488del , CM000674.2:g.91107488del
GRCh38
NC_000012.11:g.91501265del , CM000674.1:g.91501265del
GRCh37
NC_000012.10:g.90025396del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000266718.5:c.862+635del
MANE Select
ENSP00000266718.4:n.862+635del
ENST00000266718.4:c.862+635del
ENSP00000266718.4:n.862+635del
ENST00000546642.1:n.612+635del
ENST00000548071.1:n.255+635del
NM_002345.3:c.862+635del
NP_002336.1:n.862+635del
NM_002345.4:c.862+635del
MANE Select
NP_002336.1:n.862+635del
Search 100 bp 5'
Search 100 bp 3'