ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825446930
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_001070834.1:p.Glu436Ala
CA375312101
NM_001077366.2:c.1307A>C