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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:
CA1156220001
Gene: PADI6
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.17393844_17393849delinsTATCTG , CM000663.2:g.17393844_17393849delinsTATCTG
GRCh38
NC_000001.10:g.17720340_17720345delinsTATCTG , CM000663.1:g.17720340_17720345delinsTATCTG
GRCh37
NC_000001.9:g.17592927_17592932delinsTATCTG
NCBI36
NG_032943.1:g.26599_26604delinsTATCTG
NG_032943.2:g.26599_26604delinsTATCTG
Transcript Alleles
HGVS
Amino-acid change
ENST00000619609.1:c.1075-131_1075-126delinsTATCTG
MANE Select
ENSP00000483125.1:n.1075-131_1075-126delinsTATCTG
NM_207421.4:c.1075-131_1075-126delinsTATCTG
MANE Select
NP_997304.3:n.1075-131_1075-126delinsTATCTG
Search 100 bp 5'
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