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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:
CA784428447
Gene:
Linked Data
dbSNP Id:
rs1233219130
gnomAD v3:
4-10124267-GTC-G
gnomAD v4:
4-10124267-GTC-G
MyVariant Identifiers:
chr4:g.10125892_10125893del (hg19)
chr4:g.10124268_10124269del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.10124271_10124272del , CM000666.2:g.10124271_10124272del
GRCh38
NC_000004.11:g.10125895_10125896del , CM000666.1:g.10125895_10125896del
GRCh37
NC_000004.10:g.9734993_9734994del
NCBI36
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