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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:
CA414795906
Gene: MT-ATP8
HGNC
NCBI
Linked Data
dbSNP Id:
rs121434446
MyVariant Identifiers:
chrMT:g.8392G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8392G>A , J01415.2:m.8392G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361851.1:c.27G>A
ENSP00000355265.1:p.Trp9Ter
Search 100 bp 5'
Search 100 bp 3'