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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:
CA2593614865
Gene: PADI6
HGNC
NCBI
Linked Data
dbSNP Id:
rs2100323269
gnomAD v3:
1-17395912-G-GGT
gnomAD v4:
1-17395912-G-GGT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.17395914_17395915dup , CM000663.2:g.17395914_17395915dup
GRCh38
NC_000001.10:g.17722410_17722411dup , CM000663.1:g.17722410_17722411dup
GRCh37
NC_000001.9:g.17594997_17594998dup
NCBI36
NG_032943.1:g.28669_28670dup
NG_032943.2:g.28669_28670dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000619609.1:c.1618+251_1618+252dup
MANE Select
ENSP00000483125.1:n.1618+251_1618+252dup
NM_207421.4:c.1618+251_1618+252dup
MANE Select
NP_997304.3:n.1618+251_1618+252dup
Search 100 bp 5'
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