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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:
CA1156223551
Gene: PADI6
HGNC
NCBI
Linked Data
dbSNP Id:
rs2075241389
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.17395825dup , CM000663.2:g.17395825dup
GRCh38
NC_000001.10:g.17722321dup , CM000663.1:g.17722321dup
GRCh37
NC_000001.9:g.17594908dup
NCBI36
NG_032943.1:g.28580dup
NG_032943.2:g.28580dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000619609.1:c.1618+162dup
MANE Select
ENSP00000483125.1:n.1618+162dup
NM_207421.4:c.1618+162dup
MANE Select
NP_997304.3:n.1618+162dup
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