ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2056319562
Gene: PGAM1P5
HGNC
NCBI
Linked Data
dbSNP Id:
rs2077782531
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.95566030T>G , CM000674.2:g.95566030T>G
GRCh38
NC_000012.11:g.95959806T>G , CM000674.1:g.95959806T>G
GRCh37
NC_000012.10:g.94483937T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000626376.2:n.219+14230T>G
Search 100 bp 5'
Search 100 bp 3'