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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:
CA733044421
Gene:
Linked Data
dbSNP Id:
rs1215629946
gnomAD v3:
1-234590637-TCTTG-T
gnomAD v4:
1-234590637-TCTTG-T
MyVariant Identifiers:
chr1:g.234726384_234726387del (hg19)
chr1:g.234590638_234590641del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.234590641_234590644del , CM000663.2:g.234590641_234590644del
GRCh38
NC_000001.10:g.234726387_234726390del , CM000663.1:g.234726387_234726390del
GRCh37
NC_000001.9:g.232793010_232793013del
NCBI36
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