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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:
CA2643700848
Gene: PADI6
HGNC
NCBI
Linked Data
gnomAD v4:
1-17393870-G-GC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.17393871dup , CM000663.2:g.17393871dup
GRCh38
NC_000001.10:g.17720367dup , CM000663.1:g.17720367dup
GRCh37
NC_000001.9:g.17592954dup
NCBI36
NG_032943.1:g.26626dup
NG_032943.2:g.26626dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000619609.1:c.1075-104dup
MANE Select
ENSP00000483125.1:n.1075-104dup
NM_207421.4:c.1075-104dup
MANE Select
NP_997304.3:n.1075-104dup
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