ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA345920
Gene: MT-ND1
HGNC
NCBI
Linked Data - Other
Linked-Data Service Error:
Error
Failed to retrieve aggregated linked-data
Status
NodeJS Error object: timeout of 3500ms exceeded
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.3928G>C , J01415.2:m.3928G>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361390.2:c.622G>C
ENSP00000354687.2:p.Val208Leu
Search 100 bp 5'
Search 100 bp 3'