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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:
CA749589107
Gene:
Linked Data
dbSNP Id:
rs1434653753
gnomAD v3:
21-43172979-G-A
gnomAD v4:
21-43172979-G-A
MyVariant Identifiers:
chr21:g.43172979G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.43172979G>A , CM000683.2:g.43172979G>A
GRCh38
NG_009823.1:g.8949G>A
Search 100 bp 5'
Search 100 bp 3'