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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:
CA566352260
Gene:
Linked Data
dbSNP Id:
rs4645837
gnomAD v2:
6-31542470-AC-A
gnomAD v3:
6-31574693-AC-A
gnomAD v4:
6-31574693-AC-A
MyVariant Identifiers:
chr6:g.31542471del (hg19)
chr6:g.31574694del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31574700del , CM000668.2:g.31574700del
GRCh38
NC_000006.11:g.31542477del , CM000668.1:g.31542477del
GRCh37
NC_000006.10:g.31650456del
NCBI36
NG_007462.1:g.4128del
NG_012010.1:g.7602del
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