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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:
CA2641405590
Gene: DSG2
HGNC
NCBI
Linked Data
gnomAD v4:
18-31498171-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.31498173del , CM000680.2:g.31498173del
GRCh38
NC_000018.9:g.29078136del , CM000680.1:g.29078136del
GRCh37
NC_000018.8:g.27332134del
NCBI36
NG_007072.3:g.4932del , LRG_397:g.4932del
Transcript Alleles
HGVS
Amino-acid change
ENST00000261590.12:c.-79del
ENSP00000261590.8:n.-79del
NM_001943.3:c.-79del , LRG_397t1:c.-79del
NP_001934.2:n.-79del
NM_001943.4:c.-79del
NP_001934.2:n.-79del
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