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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:
CA124831221
Gene:
Linked Data
dbSNP Id:
rs147835037
gnomAD v3:
5-108580101-T-TTG
gnomAD v4:
5-108580101-T-TTG
MyVariant Identifiers:
chr5:g.107915802_107915803insTG (hg19)
chr5:g.108580101_108580102insTG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.108580114_108580115dup , CM000667.2:g.108580114_108580115dup
GRCh38
NC_000005.9:g.107915815_107915816dup , CM000667.1:g.107915815_107915816dup
GRCh37
NC_000005.8:g.107943714_107943715dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'