ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827716019
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2114941
ClinVar RCV Id:
RCV003043037
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340127.2:p.His449Asn
CA375311995
NM_001353198.2:c.1345C>A