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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:
CA120558
Gene:
Linked Data
ClinVar Variation Id:
9586
ClinVar RCV Id:
RCV000010203
RCV000851084
RCV003153297
dbSNP Id:
rs121434462
MyVariant Identifiers:
chrMT:g.12315G>A (hg38)
PubMed:
PMID:8923013
ERepo:
CA120558/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.12315G>A , J01415.2:m.12315G>A
GRCh38
Search 100 bp 5'
Search 100 bp 3'