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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:
CA16734044
Gene: TAS1R3
HGNC
NCBI
Linked Data
dbSNP Id:
rs566753113
gnomAD v2:
1-1265168-CAT-C
gnomAD v3:
1-1329788-CAT-C
gnomAD v4:
1-1329788-CAT-C
MyVariant Identifiers:
chr1:g.1265169_1265170del (hg19)
chr1:g.1329789_1329790del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.1329789_1329790del , CM000663.2:g.1329789_1329790del
GRCh38
NC_000001.10:g.1265169_1265170del , CM000663.1:g.1265169_1265170del
GRCh37
NC_000001.9:g.1255032_1255033del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_011542239.1:c.-1557_-1556del
XP_011540541.1:n.-1557_-1556del
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