ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827716178
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3250
ClinVar RCV Id:
RCV000414180
RCV000694423
RCV002286394
RCV003460409
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340127.2:p.Ala615Thr
CA116114
NM_001353198.2:c.1843G>A