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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:
CA891296242
Gene: PADI6
HGNC
NCBI
Linked Data
dbSNP Id:
rs1264328099
MyVariant Identifiers:
chr1:g.17395930_17395931insA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.17395934dup , CM000663.2:g.17395934dup
GRCh38
NC_000001.10:g.17722430dup , CM000663.1:g.17722430dup
GRCh37
NC_000001.9:g.17595017dup
NCBI36
NG_032943.1:g.28689dup
NG_032943.2:g.28689dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000619609.1:c.1618+271dup
MANE Select
ENSP00000483125.1:n.1618+271dup
NM_207421.4:c.1618+271dup
MANE Select
NP_997304.3:n.1618+271dup
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