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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:
CA2690187477
Gene: FXN
HGNC
NCBI
Linked Data
gnomAD v4:
9-69035606-C-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.69035606C>A , CM000671.2:g.69035606C>A
GRCh38
NC_000009.11:g.71650522C>A , CM000671.1:g.71650522C>A
GRCh37
NC_000009.10:g.70840342C>A
NCBI36
NG_008845.2:g.5044C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000377270.7:c.-177C>A
ENSP00000366482.3:n.-177C>A
ENST00000396364.7:c.-177C>A
ENSP00000379650.3:n.-177C>A
NM_000144.4:c.-177C>A
NP_000135.2:n.-177C>A
NM_001161706.1:c.-177C>A
NP_001155178.1:n.-177C>A
NM_181425.2:c.-177C>A
NP_852090.1:n.-177C>A
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