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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:
CA1156223442
Gene: PADI6
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.17395693_17395694delinsAC , CM000663.2:g.17395693_17395694delinsAC
GRCh38
NC_000001.10:g.17722189_17722190delinsAC , CM000663.1:g.17722189_17722190delinsAC
GRCh37
NC_000001.9:g.17594776_17594777delinsAC
NCBI36
NG_032943.1:g.28448_28449delinsAC
NG_032943.2:g.28448_28449delinsAC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000619609.1:c.1618+30_1618+31delinsAC
MANE Select
ENSP00000483125.1:n.1618+30_1618+31delinsAC
NM_207421.4:c.1618+30_1618+31delinsAC
MANE Select
NP_997304.3:n.1618+30_1618+31delinsAC
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