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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:
CA2642016451
Gene: LMAN1
HGNC
NCBI
Linked Data
gnomAD v4:
18-59359259-CGCGGAGGAGG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.59359264_59359273del , CM000680.2:g.59359264_59359273del
GRCh38
NC_000018.9:g.57026496_57026505del , CM000680.1:g.57026496_57026505del
GRCh37
NC_000018.8:g.55177476_55177485del
NCBI36
NG_012097.1:g.5008_5017del
Transcript Alleles
HGVS
Amino-acid change
ENST00000251047.5:c.-25_-16del
ENSP00000251047.4:n.-25_-16del
NM_005570.3:c.-25_-16del
NP_005561.1:n.-25_-16del
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