ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828537310
Gene: POMT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000081475
ClinVar Variation:
95450
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361621.1:p.Tyr209Cys
CA222987
NM_001374692.1:c.626A>G