ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA295436
Gene: POMT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
162597
ClinVar RCV Id:
RCV000594145
RCV000699248
RCV001004950
RCV001731484
RCV002498687
RCV003474801
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037514.2:p.Arg421Trp
CA295434
NM_013382.7:c.1261C>T