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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:
CA2480594160
Gene: GATAD2B
HGNC
NCBI
Linked Data
dbSNP Id:
rs1673888075
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.153796846_153796847insAT , CM000663.2:g.153796846_153796847insAT
GRCh38
NC_000001.10:g.153769322_153769323insAT , CM000663.1:g.153769322_153769323insAT
GRCh37
NC_000001.9:g.152035946_152035947insAT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000637918.1:c.136-6771_136-6770insAT
ENST00000427283.1:n.819+281_819+282insAT
XM_017003084.2:c.53+283_53+284insAT
XP_016858573.1:n.53+283_53+284insAT
XM_017003085.2:c.53+283_53+284insAT
XP_016858574.1:n.53+283_53+284insAT
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