ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2741813312
Gene: MYOC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2570623
ClinVar RCV Id:
RCV003307383
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000252.1:p.Thr343Asn
CA343725024
NM_000261.2:c.1028C>A