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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
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Canonical Allele Identifier:
CA279249319
Gene:
Linked Data
dbSNP Id:
rs375567291
gnomAD v3:
16-19922222-C-CTGGGAG
gnomAD v4:
16-19922222-C-CTGGGAG
MyVariant Identifiers:
chr16:g.19933544_19933545insTGGGAG (hg19)
chr16:g.19922222_19922223insTGGGAG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.19922222_19922223insTGGGAG , CM000678.2:g.19922222_19922223insTGGGAG
GRCh38
NC_000016.9:g.19933544_19933545insTGGGAG , CM000678.1:g.19933544_19933545insTGGGAG
GRCh37
NC_000016.8:g.19841045_19841046insTGGGAG
NCBI36
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