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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:
CA2695329724
Gene: PADI6
HGNC
NCBI
Linked Data
dbSNP Id:
rs2100319828
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.17393868del , CM000663.2:g.17393868del
GRCh38
NC_000001.10:g.17720364del , CM000663.1:g.17720364del
GRCh37
NC_000001.9:g.17592951del
NCBI36
NG_032943.1:g.26623del
NG_032943.2:g.26623del
Transcript Alleles
HGVS
Amino-acid change
ENST00000619609.1:c.1075-107del
MANE Select
ENSP00000483125.1:n.1075-107del
NM_207421.4:c.1075-107del
MANE Select
NP_997304.3:n.1075-107del
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