Canonical Allele Identifier: PA2741984512
Gene: PRAMEF2 HGNC NCBI
ClinVar RCV:
RCV003885067
ClinVar Variation:
3025679
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_075390.1:p.Pro117Ser
CA607989
NM_023014.1:c.349C>T