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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:
CA2593614864
Gene: PADI6
HGNC
NCBI
Linked Data
dbSNP Id:
rs2100323170
gnomAD v3:
1-17395853-T-TTC
gnomAD v4:
1-17395853-T-TTC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.17395855_17395856dup , CM000663.2:g.17395855_17395856dup
GRCh38
NC_000001.10:g.17722351_17722352dup , CM000663.1:g.17722351_17722352dup
GRCh37
NC_000001.9:g.17594938_17594939dup
NCBI36
NG_032943.1:g.28610_28611dup
NG_032943.2:g.28610_28611dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000619609.1:c.1618+192_1618+193dup
MANE Select
ENSP00000483125.1:n.1618+192_1618+193dup
NM_207421.4:c.1618+192_1618+193dup
MANE Select
NP_997304.3:n.1618+192_1618+193dup
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