ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827713988
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471383
ClinVar RCV Id:
RCV000526210
RCV000732557
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340124.1:p.Asn46Ser
CA5293287
NM_001353195.2:c.137A>G