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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
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Canonical Allele Identifier:
CA1588739974
Gene: PRELID2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.145585806_145585807delinsTG , CM000667.2:g.145585806_145585807delinsTG
GRCh38
NC_000005.9:g.144965369_144965370delinsTG , CM000667.1:g.144965369_144965370delinsTG
GRCh37
NC_000005.8:g.144945562_144945563delinsTG
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000510259.5:n.71-112492_71-112491delinsCA
XR_944308.1:n.662+179124_662+179125delinsCA
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