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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:
CA830043411
Gene:
Linked Data
dbSNP Id:
rs1304755932
gnomAD v3:
6-95519456-G-GA
gnomAD v4:
6-95519456-G-GA
MyVariant Identifiers:
chr6:g.95967332_95967333insA (hg19)
chr6:g.95519456_95519457insA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.95519461dup , CM000668.2:g.95519461dup
GRCh38
NC_000006.11:g.95967337dup , CM000668.1:g.95967337dup
GRCh37
NC_000006.10:g.96074058dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_942795.1:n.109dup
Search 100 bp 5'
Search 100 bp 3'