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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:
CA2107085329
Gene: LINC00333
HGNC
NCBI
Linked Data
dbSNP Id:
rs1875631238
gnomAD v3:
13-84603685-TAA-T
gnomAD v4:
13-84603685-TAA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.84603686_84603687del , CM000675.2:g.84603686_84603687del
GRCh38
NC_000013.10:g.85177821_85177822del , CM000675.1:g.85177821_85177822del
GRCh37
NC_000013.9:g.84075822_84075823del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_046871.1:n.750-3020_750-3019del
XR_942132.1:n.103-2038_103-2037del
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