ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA414801717
Gene: MT-ATP6
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrMT:g.8975T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8975T>A , J01415.2:m.8975T>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.449T>A
ENSP00000354632.2:p.Leu150His
Search 100 bp 5'
Search 100 bp 3'