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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:
CA1715429661
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.69146938_69146939delinsCT , CM000669.2:g.69146938_69146939delinsCT
GRCh38
NC_000007.13:g.68611925_68611926delinsCT , CM000669.1:g.68611925_68611926delinsCT
GRCh37
NC_000007.12:g.68249861_68249862delinsCT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_927647.1:n.88-813_88-812delinsAG
Search 100 bp 5'
Search 100 bp 3'