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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:
CA780869199
Gene:
Linked Data
dbSNP Id:
rs1255866140
gnomAD v3:
18-58043786-AG-A
gnomAD v4:
18-58043786-AG-A
MyVariant Identifiers:
chr18:g.55711019del (hg19)
chr18:g.58043787del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.58043790del , CM000680.2:g.58043790del
GRCh38
NC_000018.9:g.55711022del , CM000680.1:g.55711022del
GRCh37
NC_000018.8:g.53862020del
NCBI36
NG_029954.1:g.4413del
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