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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:
CA185904315
Gene:
Linked Data
dbSNP Id:
rs532144329
MyVariant Identifiers:
chr8:g.129787979_129787980insT (hg19)
chr8:g.128775733_128775734insT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.128775739dup , CM000670.2:g.128775739dup
GRCh38
NC_000008.10:g.129787985dup , CM000670.1:g.129787985dup
GRCh37
NC_000008.9:g.129857167dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'