ClinGen Allele Registry
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Canonical Allele Identifier:
CA414774586
Gene: MT-ND2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrMT:g.4491G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4491G>T , J01415.2:m.4491G>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361453.3:c.22G>T
ENSP00000355046.4:p.Val8Phe
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