ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA513535433
Gene: PPIL2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr22:g.22012673C>A (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.21658384C>A , CM000684.2:g.21658384C>A
GRCh38
NC_000022.10:g.22012673C>A , CM000684.1:g.22012673C>A
GRCh37
NC_000022.9:g.20342673C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000641967.1:n.281C>A
ENST00000498589.1:n.461C>A
XM_017029165.1:c.596C>A
XP_016884654.1:p.Ser199Tyr
NR_169729.1:n.1196C>A
NR_169730.1:n.1099C>A
NR_169731.1:n.432-2453C>A
NR_169732.1:n.250C>A
NR_169733.1:n.308C>A
NR_169734.1:n.332C>A
Search 100 bp 5'
Search 100 bp 3'