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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:
CA1691656446
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.17957857_17957860delinsAGTT , CM000669.2:g.17957857_17957860delinsAGTT
GRCh38
NC_000007.13:g.17997480_17997483delinsAGTT , CM000669.1:g.17997480_17997483delinsAGTT
GRCh37
NC_000007.12:g.17964005_17964008delinsAGTT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_927078.1:n.271-813_271-810delinsAGTT
Search 100 bp 5'
Search 100 bp 3'