ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828537456
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497644
ClinVar RCV Id:
RCV000594350
RCV001867925
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361621.1:p.Val371Met
CA5293703
NM_001374692.1:c.1111G>A