ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829567010
Gene: MYO6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1064956
ClinVar RCV Id:
RCV001375214
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004990.3:p.Ile1173Thr
CA364761553
NM_004999.4:c.3518T>C