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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:
CA987761703
Gene:
Linked Data
gnomAD v3:
18-10321387-TCCTCAAA-T
gnomAD v4:
18-10321387-TCCTCAAA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.10321388_10321394del , CM000680.2:g.10321388_10321394del
GRCh38
NC_000018.9:g.10321385_10321391del , CM000680.1:g.10321385_10321391del
GRCh37
NC_000018.8:g.10311385_10311391del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_935138.1:n.665+754_665+760del
XR_001753344.1:n.650+754_650+760del
XR_001753345.1:n.727_733del
XR_001753346.1:n.549+754_549+760del
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