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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:
CA1096780345
Gene:
Linked Data
gnomAD v3:
6-163765642-TGC-T
gnomAD v4:
6-163765642-TGC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.163765643_163765644del , CM000668.2:g.163765643_163765644del
GRCh38
NC_000006.11:g.164186675_164186676del , CM000668.1:g.164186675_164186676del
GRCh37
NC_000006.10:g.164106665_164106666del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001744452.1:n.410+6214_410+6215del
XR_001744454.1:n.369+6255_369+6256del
XR_001744455.1:n.346+6278_346+6279del
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