ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828686930
Gene: MTM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
930670
ClinVar RCV Id:
RCV001196503
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363836.1:p.Tyr161His
CA415256091
NM_001376907.1:c.481T>C