ClinGen Allele Registry
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Canonical Allele Identifier:
CA913164281
Gene: MT-ND4L
HGNC
NCBI
Linked Data
dbSNP:
2853488
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.10688G>C , J01415.2:m.10688G>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361335.1:c.219G>C
ENSP00000354728.1:p.Val73=
Search 100 bp 5'
Search 100 bp 3'