ClinGen Allele Registry
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Canonical Allele Identifier:
CA337096549
Gene: MT-ND1
HGNC
NCBI
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.3480A>G
Linked Data - NCBI & NCI
dbSNP:
28358584
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.3480A>G , J01415.2:m.3480A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361390.2:c.174A>G
ENSP00000354687.2:p.Lys58=
Search 100 bp 5'
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