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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:
CA2713343413
Gene: ADGB-DT
HGNC
NCBI
Linked Data
dbSNP Id:
rs2114816149
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.146597731_146597735del , CM000668.2:g.146597731_146597735del
GRCh38
NC_000006.11:g.146918867_146918871del , CM000668.1:g.146918867_146918871del
GRCh37
NC_000006.10:g.146960560_146960564del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_125860.1:n.201+338_201+342del
Search 100 bp 5'
Search 100 bp 3'