ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA110037
Gene: PMM2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000294.1:p.Thr226Ser
NM_000303.3:c.676A>T
NM_000303.3:c.677C>G