ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827713978
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
39434
ClinVar RCV Id:
RCV000032629
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340124.1:p.Asn27Asp
CA211169
NM_001353195.2:c.79A>G