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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:
CA780187635
Gene:
Linked Data
dbSNP Id:
rs1392279639
MyVariant Identifiers:
chr18:g.48387807_48387808insC (hg19)
chr18:g.50861437_50861438insC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.50861438dup , CM000680.2:g.50861438dup
GRCh38
NC_000018.9:g.48387808dup , CM000680.1:g.48387808dup
GRCh37
NC_000018.8:g.46641806dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'