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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:
CA1156223458
Gene: PADI6
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.17395700_17395701delinsTC , CM000663.2:g.17395700_17395701delinsTC
GRCh38
NC_000001.10:g.17722196_17722197delinsTC , CM000663.1:g.17722196_17722197delinsTC
GRCh37
NC_000001.9:g.17594783_17594784delinsTC
NCBI36
NG_032943.1:g.28455_28456delinsTC
NG_032943.2:g.28455_28456delinsTC
Transcript Alleles
HGVS
Amino-acid change
ENST00000619609.1:c.1618+37_1618+38delinsTC
MANE Select
ENSP00000483125.1:n.1618+37_1618+38delinsTC
NM_207421.4:c.1618+37_1618+38delinsTC
MANE Select
NP_997304.3:n.1618+37_1618+38delinsTC
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