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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:
CA947001031
Gene:
Linked Data
dbSNP Id:
rs1942489749
gnomAD v3:
12-42767045-TCG-T
gnomAD v4:
12-42767045-TCG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.42767046_42767047del , CM000674.2:g.42767046_42767047del
GRCh38
NC_000012.11:g.43160848_43160849del , CM000674.1:g.43160848_43160849del
GRCh37
NC_000012.10:g.41447115_41447116del
NCBI36
Search 100 bp 5'
Search 100 bp 3'