ClinGen Allele Registry
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Canonical Allele Identifier:
PA915963758
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8251
ClinVar RCV Id:
RCV000008738
RCV000008737
RCV000199381
RCV002362571
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Arg411Trp
CA119402
NM_001077401.2:c.1231C>T