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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
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Canonical Allele Identifier:
CA2536455584
Gene: C9orf72
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.27543303_27543304insCTAAAGTTTCAA , CM000671.2:g.27543303_27543304insCTAAAGTTTCAA
GRCh38
NC_000009.11:g.27543301_27543302insCTAAAGTTTCAA , CM000671.1:g.27543301_27543302insCTAAAGTTTCAA
GRCh37
NC_000009.10:g.27533301_27533302insCTAAAGTTTCAA
NCBI36
NG_031977.2:g.35563_35564insTTGAAACTTTAG
Transcript Alleles
HGVS
Amino-acid change
ENST00000673600.1:c.*267+4811_*267+4812insTTGAAACTTTAG
ENSP00000500650.1:n.*267+4811_*267+4812insTTGAAACTTTAG
XR_001746639.2:n.841_842insTTGAAACTTTAG
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