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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:
CA481083577
Gene: LUM
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr12:g.91505318_91505319insG (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.91111541_91111542insG , CM000674.2:g.91111541_91111542insG
GRCh38
NC_000012.11:g.91505318_91505319insG , CM000674.1:g.91505318_91505319insG
GRCh37
NC_000012.10:g.90029449_90029450insG
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000266718.4:c.-166_-165insC
ENSP00000266718.4:n.-166_-165insC
NM_002345.3:c.-166_-165insC
NP_002336.1:n.-166_-165insC
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