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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:
CA950429103
Gene: LUM
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.91107219del , CM000674.2:g.91107219del
GRCh38
NC_000012.11:g.91500996del , CM000674.1:g.91500996del
GRCh37
NC_000012.10:g.90025127del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000266718.5:c.862+899del
MANE Select
ENSP00000266718.4:n.862+899del
ENST00000266718.4:c.862+899del
ENSP00000266718.4:n.862+899del
ENST00000546642.1:n.612+899del
ENST00000548071.1:n.255+899del
NM_002345.3:c.862+899del
NP_002336.1:n.862+899del
NM_002345.4:c.862+899del
MANE Select
NP_002336.1:n.862+899del
Search 100 bp 5'
Search 100 bp 3'