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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:
CA520604840
Gene: TAS1R3
HGNC
NCBI
Linked Data
dbSNP Id:
rs1486625669
gnomAD v2:
1-1265169-ATG-A
gnomAD v3:
1-1329789-ATG-A
gnomAD v4:
1-1329789-ATG-A
MyVariant Identifiers:
chr1:g.1265170_1265171del (hg19)
chr1:g.1329790_1329791del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.1329796_1329797del , CM000663.2:g.1329796_1329797del
GRCh38
NC_000001.10:g.1265176_1265177del , CM000663.1:g.1265176_1265177del
GRCh37
NC_000001.9:g.1255039_1255040del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_011542239.1:c.-1550_-1549del
XP_011540541.1:n.-1550_-1549del
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