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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:
CA780711170
Gene:
Linked Data
dbSNP Id:
rs1214600201
gnomAD v3:
18-55996855-AG-A
gnomAD v4:
18-55996855-AG-A
MyVariant Identifiers:
chr18:g.53664087del (hg19)
chr18:g.55996856del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.55996857del , CM000680.2:g.55996857del
GRCh38
NC_000018.9:g.53664088del , CM000680.1:g.53664088del
GRCh37
NC_000018.8:g.51815086del
NCBI36
Search 100 bp 5'
Search 100 bp 3'