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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:
CA2523752701
Gene: CCDC26
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.129633515dup , CM000670.2:g.129633515dup
GRCh38
NC_000008.10:g.130645761dup , CM000670.1:g.130645761dup
GRCh37
NC_000008.9:g.130714943dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_130917.1:n.312+46417dup
Search 100 bp 5'
Search 100 bp 3'