ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825446900
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
856405
ClinVar RCV Id:
RCV001061860
RCV003132198
RCV002553908
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070834.1:p.Tyr426Cys
CA5293694
NM_001077366.2:c.1277A>G