ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA271781
Gene: MTM1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000146398
ClinVar Variation:
158919
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000243.1:p.Asp443Ala
CA271779
NM_000252.3:c.1328A>C