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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:
CA414823493
Gene: MT-ND6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
441110
ClinVar RCV Id:
RCV000509421
dbSNP Id:
rs1556424474
MyVariant Identifiers:
chrMT:g.14663G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.14663G>A , J01415.2:m.14663G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361681.2:c.11C>T
ENSP00000354665.2:p.Ala4Val
Search 100 bp 5'
Search 100 bp 3'