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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:
CA620161568
Gene:
Linked Data
dbSNP Id:
rs1288565025
gnomAD v2:
16-226550-CGCAGGCCCCGCCCGGGACTCCCCT-C
gnomAD v3:
16-176551-CGCAGGCCCCGCCCGGGACTCCCCT-C
gnomAD v4:
16-176551-CGCAGGCCCCGCCCGGGACTCCCCT-C
MyVariant Identifiers:
chr16:g.226551_226574del (hg19)
chr16:g.176552_176575del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.176554_176577del , CM000678.2:g.176554_176577del
GRCh38
NC_000016.9:g.226553_226576del , CM000678.1:g.226553_226576del
GRCh37
NC_000016.8:g.166553_166576del
NCBI36
NG_000006.1:g.37417_37440del
NG_059186.1:g.4904_4927del
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