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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:
CA830285529
Gene:
Linked Data
dbSNP Id:
rs1477149456
gnomAD v3:
6-98102391-GT-G
gnomAD v4:
6-98102391-GT-G
MyVariant Identifiers:
chr6:g.98550268del (hg19)
chr6:g.98102392del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.98102392del , CM000668.2:g.98102392del
GRCh38
NC_000006.11:g.98550268del , CM000668.1:g.98550268del
GRCh37
NC_000006.10:g.98656989del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_245563.2:n.456+3122del
XR_942809.1:n.456+3122del
Search 100 bp 5'
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