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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:
CA2643699409
Gene: PADI6
HGNC
NCBI
Linked Data
gnomAD v4:
1-17381955-TC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.17381956del , CM000663.2:g.17381956del
GRCh38
NC_000001.10:g.17708451del , CM000663.1:g.17708451del
GRCh37
NC_000001.9:g.17581038del
NCBI36
NG_032943.1:g.14711del
NG_032943.2:g.14711del
Transcript Alleles
HGVS
Amino-acid change
ENST00000619609.1:c.554-11del
MANE Select
ENSP00000483125.1:n.554-11del
NM_207421.4:c.554-11del
MANE Select
NP_997304.3:n.554-11del
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