ClinGen Allele Registry
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Canonical Allele Identifier:
CA414804614
Gene: MT-ND3
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.10238T>C
Linked Data - NCBI & NCI
dbSNP:
193302927
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.10238T>C , J01415.2:m.10238T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361227.2:c.180T>C
ENSP00000355206.2:p.Ile60=
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