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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:
CA1842199348
Gene: C9orf72
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.27543304_27543305delinsAG , CM000671.2:g.27543304_27543305delinsAG
GRCh38
NC_000009.11:g.27543302_27543303delinsAG , CM000671.1:g.27543302_27543303delinsAG
GRCh37
NC_000009.10:g.27533302_27533303delinsAG
NCBI36
NG_031977.2:g.35562_35563delinsCT
Transcript Alleles
HGVS
Amino-acid change
ENST00000673600.1:c.*267+4810_*267+4811delinsCT
ENSP00000500650.1:n.*267+4810_*267+4811delinsCT
XR_001746639.2:n.840_841delinsCT
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