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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:
CA1057357559
Gene:
Linked Data
dbSNP Id:
rs1742037440
gnomAD v3:
3-185826346-AACGTGACCG-A
gnomAD v4:
3-185826346-AACGTGACCG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.185826350_185826358del , CM000665.2:g.185826350_185826358del
GRCh38
NC_000003.11:g.185544138_185544146del , CM000665.1:g.185544138_185544146del
GRCh37
NC_000003.10:g.187026832_187026840del
NCBI36
NG_011602.1:g.3685_3693del
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