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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:
CA585050602
Gene:
Linked Data
dbSNP Id:
rs1201156895
gnomAD v2:
8-128124780-TA-T
gnomAD v3:
8-127112535-TA-T
gnomAD v4:
8-127112535-TA-T
MyVariant Identifiers:
chr8:g.128124781del (hg19)
chr8:g.127112536del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127112539del , CM000670.2:g.127112539del
GRCh38
NC_000008.10:g.128124784del , CM000670.1:g.128124784del
GRCh37
NC_000008.9:g.128193966del
NCBI36
Search 100 bp 5'
Search 100 bp 3'