Canonical Allele Identifier: PA645469068
Gene: PMM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 289916
ClinVar RCV Id: RCV000395684
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000294.1:p.Ser130Cys
CA10606595
NM_000303.3:c.389C>G