ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139722648
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
39435
ClinVar RCV Id:
RCV000032630
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009102.4:p.Thr414Met
CA211172
NM_007171.4:c.1241C>T