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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:
CA2742649021
Gene: PADI6
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.17393841_17393842del , CM000663.2:g.17393841_17393842del
GRCh38
NC_000001.10:g.17720337_17720338del , CM000663.1:g.17720337_17720338del
GRCh37
NC_000001.9:g.17592924_17592925del
NCBI36
NG_032943.1:g.26596_26597del
NG_032943.2:g.26596_26597del
Transcript Alleles
HGVS
Amino-acid change
ENST00000619609.1:c.1075-134_1075-133del
MANE Select
ENSP00000483125.1:n.1075-134_1075-133del
NM_207421.4:c.1075-134_1075-133del
MANE Select
NP_997304.3:n.1075-134_1075-133del
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