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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:
CA891296229
Gene: PADI6
HGNC
NCBI
Linked Data
dbSNP Id:
rs1388898474
MyVariant Identifiers:
chr1:g.17395924_17395925insGG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.17395929_17395930dup , CM000663.2:g.17395929_17395930dup
GRCh38
NC_000001.10:g.17722425_17722426dup , CM000663.1:g.17722425_17722426dup
GRCh37
NC_000001.9:g.17595012_17595013dup
NCBI36
NG_032943.1:g.28684_28685dup
NG_032943.2:g.28684_28685dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000619609.1:c.1618+266_1618+267dup
MANE Select
ENSP00000483125.1:n.1618+266_1618+267dup
NM_207421.4:c.1618+266_1618+267dup
MANE Select
NP_997304.3:n.1618+266_1618+267dup
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