ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499230193
Gene: MYBPC3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1172302
ClinVar RCV Id:
RCV001526056
RCV003771616
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000247.2:p.Ile539Ser
CA380324996
NM_000256.3:c.1616T>G