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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:
CA728927611
Gene:
Linked Data
dbSNP Id:
rs1259009259
gnomAD v3:
1-188414278-TA-T
gnomAD v4:
1-188414278-TA-T
MyVariant Identifiers:
chr1:g.188383410del (hg19)
chr1:g.188414279del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.188414280del , CM000663.2:g.188414280del
GRCh38
NC_000001.10:g.188383411del , CM000663.1:g.188383411del
GRCh37
NC_000001.9:g.186650034del
NCBI36
Search 100 bp 5'
Search 100 bp 3'