Canonical Allele Identifier: PA109930
Gene: PMM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 7711
ClinVar RCV Id: RCV000008150 RCV000624449 RCV000790706
ClinVar Variation Id: 371231
ClinVar RCV Id: RCV000409396
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000294.1:p.Phe119Leu
CA220620
NM_000303.3:c.357C>A
CA16041798
NM_000303.3:c.355T>C
CA394696509
NM_000303.3:c.357C>G