ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645430321
Gene: ACVRL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000488516
RCV001507808
RCV001865506
ClinVar Variation:
426021
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Ile317Thr
CA384901237
NM_000020.3:c.950T>C