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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:
CA1142079899
Gene: PADI6
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.17395828_17395833delinsTACTAC , CM000663.2:g.17395828_17395833delinsTACTAC
GRCh38
NC_000001.10:g.17722324_17722329delinsTACTAC , CM000663.1:g.17722324_17722329delinsTACTAC
GRCh37
NC_000001.9:g.17594911_17594916delinsTACTAC
NCBI36
NG_032943.1:g.28583_28588delinsTACTAC
NG_032943.2:g.28583_28588delinsTACTAC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000619609.1:c.1618+165_1618+170delinsTACTAC
MANE Select
ENSP00000483125.1:n.1618+165_1618+170delinsTACTAC
NM_207421.4:c.1618+165_1618+170delinsTACTAC
MANE Select
NP_997304.3:n.1618+165_1618+170delinsTACTAC
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