ClinGen Allele Registry
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Canonical Allele Identifier:
CA513535473
Gene: PPIL2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr22:g.22012685A>C (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.21658396A>C , CM000684.2:g.21658396A>C
GRCh38
NC_000022.10:g.22012685A>C , CM000684.1:g.22012685A>C
GRCh37
NC_000022.9:g.20342685A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000641967.1:n.286+7A>C
ENST00000498589.1:n.473A>C
XM_017029165.1:c.608A>C
XP_016884654.1:p.Asp203Ala
NR_169729.1:n.1208A>C
NR_169730.1:n.1111A>C
NR_169731.1:n.432-2441A>C
NR_169732.1:n.262A>C
NR_169733.1:n.320A>C
NR_169734.1:n.344A>C
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