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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:
CA120554
Gene:
Linked Data
ClinVar Variation Id:
9580
ClinVar RCV Id:
RCV000010195
RCV000010196
RCV000850957
RCV003162231
dbSNP Id:
rs118192099
MyVariant Identifiers:
chrMT:g.8356T>C (hg38)
PubMed:
PMID:1361099
PMID:8069654
PMID:20301693
PMID:20610441
ERepo:
CA120554/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8356T>C , J01415.2:m.8356T>C
GRCh38
Search 100 bp 5'
Search 100 bp 3'