ClinGen Allele Registry
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Canonical Allele Identifier:
CA913171252
Gene: MT-ND5
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.13848C>G , J01415.2:m.13848C>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361567.2:c.1512C>G
ENSP00000354813.2:p.Leu504=
Search 100 bp 5'
Search 100 bp 3'