ClinGen Allele Registry
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Canonical Allele Identifier:
CA913177512
Gene: MT-ND1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1603219378
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4254T>C , J01415.2:m.4254T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361390.2:c.948T>C
ENSP00000354687.2:p.Pro316=
Search 100 bp 5'
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