ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825004984
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1772647
ClinVar RCV Id:
RCV002394303
RCV003509750
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Leu480Phe
CA384905700
NM_000020.3:c.1438C>T