ClinGen Allele Registry
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Canonical Allele Identifier:
CA2056319594
Gene: PGAM1P5
HGNC
NCBI
Linked Data
dbSNP Id:
rs2077782627
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.95566074T>A , CM000674.2:g.95566074T>A
GRCh38
NC_000012.11:g.95959850T>A , CM000674.1:g.95959850T>A
GRCh37
NC_000012.10:g.94483981T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000626376.2:n.219+14274T>A
Search 100 bp 5'
Search 100 bp 3'