ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828537407
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1806943
ClinVar RCV Id:
RCV002474372
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361621.1:p.Ile322Phe
CA375311297
NM_001374692.1:c.964A>T