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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:
CA2078706945
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.23468327_23468329delinsATC , CM000675.2:g.23468327_23468329delinsATC
GRCh38
NC_000013.10:g.24042466_24042468delinsATC , CM000675.1:g.24042466_24042468delinsATC
GRCh37
NC_000013.9:g.22940466_22940468delinsATC
NCBI36
Search 100 bp 5'
Search 100 bp 3'