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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:
CA1628674078
Gene:
Linked Data
dbSNP Id:
rs1763280067
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.52186164_52186166del , CM000668.2:g.52186164_52186166del
GRCh38
NC_000006.11:g.52050962_52050964del , CM000668.1:g.52050962_52050964del
GRCh37
NC_000006.10:g.52158921_52158923del
NCBI36
NG_033021.1:g.4778_4780del
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