ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827715618
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3216744
ClinVar RCV Id:
RCV004514607
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340126.2:p.Ser654Ala
CA375315087
NM_001353197.2:c.1960T>G