ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828535902
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448111
ClinVar RCV Id:
RCV000516425
RCV001369456
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361618.1:p.Ala491Val
CA5293711
NM_001374689.1:c.1472C>T