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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:
CA1619157130
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31439972_31439981delinsCCACTACTTG , CM000668.2:g.31439972_31439981delinsCCACTACTTG
GRCh38
NC_000006.11:g.31407749_31407758delinsCCACTACTTG , CM000668.1:g.31407749_31407758delinsCCACTACTTG
GRCh37
NC_000006.10:g.31515728_31515737delinsCCACTACTTG
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_926694.1:n.126_135delinsCAAGTAGTGG
Search 100 bp 5'
Search 100 bp 3'