ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827714382
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285305
ClinVar RCV Id:
RCV000289951
RCV000554517
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340124.1:p.Arg482Trp
CA5293826
NM_001353195.2:c.1444C>T