ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825816118
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1372872
ClinVar RCV Id:
RCV001874894
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129585.1:p.Leu704Phe
CA375315280
NM_001136113.2:c.2110C>T