ClinGen Allele Registry
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Canonical Allele Identifier:
CA513535377
Gene: PPIL2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr22:g.22012656C>A (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.21658367C>A , CM000684.2:g.21658367C>A
GRCh38
NC_000022.10:g.22012656C>A , CM000684.1:g.22012656C>A
GRCh37
NC_000022.9:g.20342656C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000641967.1:n.264C>A
ENST00000498589.1:n.444C>A
XM_017029165.1:c.579C>A
XP_016884654.1:p.His193Gln
NR_169729.1:n.1179C>A
NR_169730.1:n.1082C>A
NR_169731.1:n.432-2470C>A
NR_169732.1:n.233C>A
NR_169733.1:n.291C>A
NR_169734.1:n.315C>A
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