ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826029631
Gene: MUSK
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000170588
RCV000414863
RCV001579456
RCV002515221
ClinVar Variation:
190467
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159753.1:p.Ile479Thr
CA5184434
NM_001166281.2:c.1436T>C