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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:
CA2694816903
Gene: CD40LG
HGNC
NCBI
Linked Data
gnomAD v4:
X-136648157-TA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.136648159del , CM000685.2:g.136648159del
GRCh38
NC_000023.10:g.135730318del , CM000685.1:g.135730318del
GRCh37
NC_000023.9:g.135557984del
NCBI36
NG_007280.1:g.4983del , LRG_141:g.4983del
Transcript Alleles
HGVS
Amino-acid change
ENST00000370629.7:c.-90del
MANE Select
ENSP00000359663.2:n.-90del
NM_000074.3:c.-90del
MANE Select
NP_000065.1:n.-90del
Search 100 bp 5'
Search 100 bp 3'