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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:
CA975435858
Gene:
Linked Data
dbSNP Id:
rs2056960714
gnomAD v3:
16-19922319-AT-A
gnomAD v4:
16-19922319-AT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.19922321del , CM000678.2:g.19922321del
GRCh38
NC_000016.9:g.19933643del , CM000678.1:g.19933643del
GRCh37
NC_000016.8:g.19841144del
NCBI36
Search 100 bp 5'
Search 100 bp 3'