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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:
CA621009408
Gene:
Linked Data
dbSNP Id:
rs1284377611
rs2141743773
gnomAD v2:
16-12708212-GAT-G
gnomAD v3:
16-12614355-GAT-G
gnomAD v4:
16-12614355-GAT-G
MyVariant Identifiers:
chr16:g.12708213_12708214del (hg19)
chr16:g.12614356_12614357del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.12614356_12614357del , CM000678.2:g.12614356_12614357del
GRCh38
NC_000016.9:g.12708213_12708214del , CM000678.1:g.12708213_12708214del
GRCh37
NC_000016.8:g.12615714_12615715del
NCBI36
Search 100 bp 5'
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