ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828537962
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1500135
ClinVar RCV Id:
RCV002042509
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361622.1:p.Glu373Ala
CA375312101
NM_001374693.1:c.1118A>C