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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:
CA1150971042
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.5294792_5294797delinsGTTCCC , CM000663.2:g.5294792_5294797delinsGTTCCC
GRCh38
NC_000001.10:g.5354852_5354857delinsGTTCCC , CM000663.1:g.5354852_5354857delinsGTTCCC
GRCh37
NC_000001.9:g.5254712_5254717delinsGTTCCC
NCBI36
Search 100 bp 5'
Search 100 bp 3'