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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:
CA1715429910
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.69147064_69147066delinsCAG , CM000669.2:g.69147064_69147066delinsCAG
GRCh38
NC_000007.13:g.68612051_68612053delinsCAG , CM000669.1:g.68612051_68612053delinsCAG
GRCh37
NC_000007.12:g.68249987_68249989delinsCAG
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_927647.1:n.88-940_88-938delinsCTG
Search 100 bp 5'
Search 100 bp 3'