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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:
CA1715429693
Gene:
Linked Data
dbSNP Id:
rs1788208494
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.69146940_69146941insCCC , CM000669.2:g.69146940_69146941insCCC
GRCh38
NC_000007.13:g.68611927_68611928insCCC , CM000669.1:g.68611927_68611928insCCC
GRCh37
NC_000007.12:g.68249863_68249864insCCC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_927647.1:n.88-815_88-814insGGG
Search 100 bp 5'
Search 100 bp 3'