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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:
CA1156223546
Gene: PADI6
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.17395823_17395824delinsAG , CM000663.2:g.17395823_17395824delinsAG
GRCh38
NC_000001.10:g.17722319_17722320delinsAG , CM000663.1:g.17722319_17722320delinsAG
GRCh37
NC_000001.9:g.17594906_17594907delinsAG
NCBI36
NG_032943.1:g.28578_28579delinsAG
NG_032943.2:g.28578_28579delinsAG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000619609.1:c.1618+160_1618+161delinsAG
MANE Select
ENSP00000483125.1:n.1618+160_1618+161delinsAG
NM_207421.4:c.1618+160_1618+161delinsAG
MANE Select
NP_997304.3:n.1618+160_1618+161delinsAG
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