ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573165552
Gene: MYOC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1686791
ClinVar RCV Id:
RCV002248296
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000252.1:p.Val495Ile
CA343722912
NM_000261.2:c.1483G>A