ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915963817
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426036
ClinVar RCV Id:
RCV000488694
RCV001241423
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Arg479Pro
CA384905687
NM_001077401.2:c.1436G>C