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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:
CA2550934369
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.81524087_81524088dup , CM000673.2:g.81524087_81524088dup
GRCh38
NC_000011.9:g.81235129_81235130dup , CM000673.1:g.81235129_81235130dup
GRCh37
NC_000011.8:g.80912777_80912778dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'