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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:
CA1156223554
Gene: PADI6
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.17395827_17395830delinsGTAC , CM000663.2:g.17395827_17395830delinsGTAC
GRCh38
NC_000001.10:g.17722323_17722326delinsGTAC , CM000663.1:g.17722323_17722326delinsGTAC
GRCh37
NC_000001.9:g.17594910_17594913delinsGTAC
NCBI36
NG_032943.1:g.28582_28585delinsGTAC
NG_032943.2:g.28582_28585delinsGTAC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000619609.1:c.1618+164_1618+167delinsGTAC
MANE Select
ENSP00000483125.1:n.1618+164_1618+167delinsGTAC
NM_207421.4:c.1618+164_1618+167delinsGTAC
MANE Select
NP_997304.3:n.1618+164_1618+167delinsGTAC
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