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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:
CA149263613
Gene:
Linked Data
dbSNP Id:
rs954290605
gnomAD v3:
6-140848689-G-GA
gnomAD v4:
6-140848689-G-GA
MyVariant Identifiers:
chr6:g.141169826_141169827insA (hg19)
chr6:g.140848689_140848690insA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.140848695dup , CM000668.2:g.140848695dup
GRCh38
NC_000006.11:g.141169832dup , CM000668.1:g.141169832dup
GRCh37
NC_000006.10:g.141211525dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_428030.2:n.327-2386dup
XR_943075.1:n.315-2386dup
XR_943076.1:n.246-2386dup
XR_001744390.1:n.235-32460dup
XR_428030.4:n.341-2386dup
XR_943075.3:n.329-2386dup
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