ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828687125
Gene: MTM1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000146416
ClinVar Variation:
158937
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363836.1:p.Phe441Ser
CA271820
NM_001376907.1:c.1322T>C