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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:
CA1619157136
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31439985_31439986delinsTA , CM000668.2:g.31439985_31439986delinsTA
GRCh38
NC_000006.11:g.31407762_31407763delinsTA , CM000668.1:g.31407762_31407763delinsTA
GRCh37
NC_000006.10:g.31515741_31515742delinsTA
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_926694.1:n.121_122delinsTA
Search 100 bp 5'
Search 100 bp 3'