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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:
CA918433974
Gene: C9orf72
HGNC
NCBI
Linked Data
dbSNP Id:
rs1587291642
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.27543305del , CM000671.2:g.27543305del
GRCh38
NC_000009.11:g.27543303del , CM000671.1:g.27543303del
GRCh37
NC_000009.10:g.27533303del
NCBI36
NG_031977.2:g.35562del
Transcript Alleles
HGVS
Amino-acid change
ENST00000673600.1:c.*267+4810del
ENSP00000500650.1:n.*267+4810del
XR_001746639.2:n.840del
Search 100 bp 5'
Search 100 bp 3'