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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:
CA641819
Gene: PADI6
HGNC
NCBI
Linked Data
dbSNP Id:
rs750656146
ExAC:
1:17722209 A / AG
gnomAD v2:
1-17722209-A-AG
gnomAD v4:
1-17395713-A-AG
MyVariant Identifiers:
chr1:g.17722209_17722210insG (hg19)
chr1:g.17395713_17395714insG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.17395717dup , CM000663.2:g.17395717dup
GRCh38
NC_000001.10:g.17722213dup , CM000663.1:g.17722213dup
GRCh37
NC_000001.9:g.17594800dup
NCBI36
NG_032943.1:g.28472dup
NG_032943.2:g.28472dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000619609.1:c.1618+54dup
MANE Select
ENSP00000483125.1:n.1618+54dup
NM_207421.4:c.1618+54dup
MANE Select
NP_997304.3:n.1618+54dup
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