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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:
CA2561376075
Gene: C17orf100
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.6656442_6656453dup , CM000679.2:g.6656442_6656453dup
GRCh38
NC_000017.10:g.6559761_6559772dup , CM000679.1:g.6559761_6559772dup
GRCh37
NC_000017.9:g.6500485_6500496dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000634977.1:n.431+3848_431+3859dup
ENST00000635042.1:n.724+3848_724+3859dup
Search 100 bp 5'
Search 100 bp 3'