ClinGen Allele Registry
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Canonical Allele Identifier:
CA2499565712
Gene: MT-ATP8
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8513C= , J01415.2:m.8513C=
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361851.1:c.148C=
ENSP00000355265.1:p.Pro50=
Search 100 bp 5'
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