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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
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Canonical Allele Identifier:
CA414823223
Gene: MT-ND6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693745
ClinVar RCV Id:
RCV000855134
dbSNP Id:
rs1603224806
COSMIC:
COSM1138278
COSM1138279
MyVariant Identifiers:
chrMT:g.14601G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.14601G>A , J01415.2:m.14601G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361681.2:c.73C>T
ENSP00000354665.2:p.Pro25Ser
Search 100 bp 5'
Search 100 bp 3'