ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573074001
Gene: MTM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158995
ClinVar RCV Id:
RCV000146474
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363837.1:p.Pro226Thr
CA271923
NM_001376908.1:c.676C>A