ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645501554
Gene: POMT2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000324625
RCV000547725
RCV001084974
RCV003967712
ClinVar Variation:
282243
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037514.2:p.Arg686Gln
CA7285556
NM_013382.7:c.2057G>A