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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:
CA931954154
Gene:
Linked Data
gnomAD v3:
10-102837804-CTTT-C
gnomAD v4:
10-102837804-CTTT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.102837815_102837817del , CM000672.2:g.102837815_102837817del
GRCh38
NC_000010.10:g.104597572_104597574del , CM000672.1:g.104597572_104597574del
GRCh37
NC_000010.9:g.104587562_104587564del
NCBI36
NG_007955.1:g.4727_4729del
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