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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:
CA2666624129
Gene: GBE1
HGNC
NCBI
Linked Data
gnomAD v4:
3-81648854-AC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.81648856del , CM000665.2:g.81648856del
GRCh38
NC_000003.11:g.81698007del , CM000665.1:g.81698007del
GRCh37
NC_000003.10:g.81780697del
NCBI36
NG_011810.1:g.117946del
Transcript Alleles
HGVS
Amino-acid change
ENST00000429644.7:c.691+1del
ENST00000429644.6:c.691+1del
ENST00000489715.1:c.568+1del
ENST00000498468.1:n.219+1del
NM_000158.3:c.691+1del
NM_000158.4:c.691+1del
Search 100 bp 5'
Search 100 bp 3'