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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:
CA2694816908
Gene: CD40LG
HGNC
NCBI
Linked Data
gnomAD v4:
X-136648168-A-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.136648168A>C , CM000685.2:g.136648168A>C
GRCh38
NC_000023.10:g.135730327A>C , CM000685.1:g.135730327A>C
GRCh37
NC_000023.9:g.135557993A>C
NCBI36
NG_007280.1:g.4992A>C , LRG_141:g.4992A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000695724.1:c.-81A>C
ENSP00000512122.1:n.-81A>C
ENST00000370629.7:c.-81A>C
MANE Select
ENSP00000359663.2:n.-81A>C
NM_000074.3:c.-81A>C
MANE Select
NP_000065.1:n.-81A>C
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