ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825816085
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
805235
ClinVar RCV Id:
RCV000992697
RCV001346349
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129585.1:p.Val690Met
CA5293928
NM_001136113.2:c.2068G>A