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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:
CA1297505970
Gene:
Linked Data
dbSNP Id:
rs1684321797
gnomAD v3:
2-150080565-G-GTA
gnomAD v4:
2-150080565-G-GTA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.150080572_150080573dup , CM000664.2:g.150080572_150080573dup
GRCh38
NC_000002.11:g.150937086_150937087dup , CM000664.1:g.150937086_150937087dup
GRCh37
NC_000002.10:g.150645332_150645333dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'