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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:
CA120555
Gene:
Linked Data
ClinVar Variation Id:
9581
ClinVar RCV Id:
RCV000010197
RCV000144004
RCV000192053
RCV000850961
RCV003162232
dbSNP Id:
rs118192100
MyVariant Identifiers:
chrMT:g.8363G>A (hg38)
PubMed:
PMID:8651277
PMID:11108511
PMID:20301352
PMID:20301693
ERepo:
CA120555/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8363G>A , J01415.2:m.8363G>A
GRCh38
Search 100 bp 5'
Search 100 bp 3'