ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645430285
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426019
ClinVar RCV Id:
RCV000488673
RCV002413347
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Leu285Pro
CA384900566
NM_000020.3:c.854T>C