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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
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Canonical Allele Identifier:
CA2569494247
Gene: PADI6
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.17395928_17395930del , CM000663.2:g.17395928_17395930del
GRCh38
NC_000001.10:g.17722424_17722426del , CM000663.1:g.17722424_17722426del
GRCh37
NC_000001.9:g.17595011_17595013del
NCBI36
NG_032943.1:g.28683_28685del
NG_032943.2:g.28683_28685del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000619609.1:c.1618+265_1618+267del
MANE Select
ENSP00000483125.1:n.1618+265_1618+267del
NM_207421.4:c.1618+265_1618+267del
MANE Select
NP_997304.3:n.1618+265_1618+267del
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