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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:
CA628431499
Gene:
Linked Data
gnomAD v2:
18-10321349-G-GTTTTTTTT
MyVariant Identifiers:
chr18:g.10321349_10321350insTTTTTTTT (hg19)
chr18:g.10321352_10321353insTTTTTTTT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.10321354_10321355insTTTTTTTT , CM000680.2:g.10321354_10321355insTTTTTTTT
GRCh38
NC_000018.9:g.10321351_10321352insTTTTTTTT , CM000680.1:g.10321351_10321352insTTTTTTTT
GRCh37
NC_000018.8:g.10311351_10311352insTTTTTTTT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_935138.1:n.665+795_665+796insAAAAAAAA
XR_001753344.1:n.650+795_650+796insAAAAAAAA
XR_001753345.1:n.768_769insAAAAAAAA
XR_001753346.1:n.549+795_549+796insAAAAAAAA
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