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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:
CA1043571255
Gene:
Linked Data
dbSNP Id:
rs2072651369
gnomAD v3:
2-233595429-A-ATGCC
gnomAD v4:
2-233595429-A-ATGCC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.233595429_233595430insTGCC , CM000664.2:g.233595429_233595430insTGCC
GRCh38
NC_000002.11:g.234504075_234504076insTGCC , CM000664.1:g.234504075_234504076insTGCC
GRCh37
NC_000002.10:g.234168814_234168815insTGCC
NCBI36
NG_002601.2:g.10686_10687insTGCC
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