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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:
CA641810
Gene: PADI6
HGNC
NCBI
Linked Data
dbSNP Id:
rs774900271
ExAC:
1:17722184 A / AC
gnomAD v2:
1-17722184-A-AC
gnomAD v4:
1-17395688-A-AC
MyVariant Identifiers:
chr1:g.17722184_17722185insC (hg19)
chr1:g.17395688_17395689insC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.17395689dup , CM000663.2:g.17395689dup
GRCh38
NC_000001.10:g.17722185dup , CM000663.1:g.17722185dup
GRCh37
NC_000001.9:g.17594772dup
NCBI36
NG_032943.1:g.28444dup
NG_032943.2:g.28444dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000619609.1:c.1618+26dup
MANE Select
ENSP00000483125.1:n.1618+26dup
NM_207421.4:c.1618+26dup
MANE Select
NP_997304.3:n.1618+26dup
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