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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:
CA931954153
Gene:
Linked Data
dbSNP Id:
rs201804643
gnomAD v3:
10-102837804-CTT-C
gnomAD v4:
10-102837804-CTT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.102837816_102837817del , CM000672.2:g.102837816_102837817del
GRCh38
NC_000010.10:g.104597573_104597574del , CM000672.1:g.104597573_104597574del
GRCh37
NC_000010.9:g.104587563_104587564del
NCBI36
NG_007955.1:g.4728_4729del
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