ClinGen Allele Registry
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Canonical Allele Identifier:
CA513535188
Gene: PPIL2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr22:g.22012591C>G (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.21658302C>G , CM000684.2:g.21658302C>G
GRCh38
NC_000022.10:g.22012591C>G , CM000684.1:g.22012591C>G
GRCh37
NC_000022.9:g.20342591C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000641967.1:n.199C>G
ENST00000498589.1:n.379C>G
XM_017029165.1:c.514C>G
XP_016884654.1:p.His172Asp
NR_169729.1:n.1114C>G
NR_169730.1:n.1017C>G
NR_169731.1:n.432-2535C>G
NR_169732.1:n.168C>G
NR_169733.1:n.226C>G
NR_169734.1:n.250C>G
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