×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2573105236
Gene: MT-ND5
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.12380_12384del , J01415.2:m.12380_12384del
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361567.2:c.44_48del
ENSP00000354813.2:p.Leu15ProfsTer9
Search 100 bp 5'
Search 100 bp 3'