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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:
CA414795716
Gene: MT-CO2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
692830
ClinVar RCV Id:
RCV000854158
dbSNP Id:
rs1603221354
MyVariant Identifiers:
chrMT:g.8256T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8256T>C , J01415.2:m.8256T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361739.1:c.671T>C
ENSP00000354876.1:p.Val224Ala
Search 100 bp 5'
Search 100 bp 3'