ClinGen Allele Registry
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Canonical Allele Identifier:
CA913177503
Gene: MT-ND1
HGNC
NCBI
Linked Data - NCBI & NCI
dbSNP:
9326618
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4248T>A , J01415.2:m.4248T>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361390.2:c.942T>A
ENSP00000354687.2:p.Ile314=
Search 100 bp 5'
Search 100 bp 3'