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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:
CA1128367923
Gene:
Linked Data
dbSNP Id:
rs1829833987
gnomAD v3:
9-114806945-TTAAA-T
gnomAD v4:
9-114806945-TTAAA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.114806948_114806951del , CM000671.2:g.114806948_114806951del
GRCh38
NC_000009.11:g.117569228_117569231del , CM000671.1:g.117569228_117569231del
GRCh37
NC_000009.10:g.116609049_116609052del
NCBI36
NG_011488.2:g.4180_4183del
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