ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829694478
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285812
ClinVar RCV Id:
RCV000712827
RCV000540929
RCV002519193
RCV004543069
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009102.4:p.Ala196Thr
CA5293329
NM_007171.4:c.586G>A