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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:
CA1715429877
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.69147018_69147031delinsTTAGTTCTGGTTTA , CM000669.2:g.69147018_69147031delinsTTAGTTCTGGTTTA
GRCh38
NC_000007.13:g.68612005_68612018delinsTTAGTTCTGGTTTA , CM000669.1:g.68612005_68612018delinsTTAGTTCTGGTTTA
GRCh37
NC_000007.12:g.68249941_68249954delinsTTAGTTCTGGTTTA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_927647.1:n.88-905_88-892delinsTAAACCAGAACTAA
Search 100 bp 5'
Search 100 bp 3'