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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:
CA16042253
Gene: PADI6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372231
ClinVar RCV Id:
RCV000412549
dbSNP Id:
rs1057517683
gnomAD v4:
1-17392121-C-T
MyVariant Identifiers:
chr1:g.17392121C>T (hg38)
PubMed:
PMID:27545678
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.17392121C>T , CM000663.2:g.17392121C>T
GRCh38
NG_032943.1:g.24876C>T
NG_032943.2:g.24876C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000619609.1:c.970C>T
MANE Select
ENSP00000483125.1:p.Gln324Ter
NM_207421.4:c.970C>T
MANE Select
NP_997304.3:p.Gln324Ter
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