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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:
CA800833908
Gene:
Linked Data
dbSNP Id:
rs1249464276
MyVariant Identifiers:
chr5:g.99948972_99948973del (hg19)
chr5:g.100613268_100613269del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.100613270_100613271del , CM000667.2:g.100613270_100613271del
GRCh38
NC_000005.9:g.99948974_99948975del , CM000667.1:g.99948974_99948975del
GRCh37
NC_000005.8:g.99976873_99976874del
NCBI36
Search 100 bp 5'
Search 100 bp 3'