ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915963312
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
212797
ClinVar RCV Id:
RCV000200161
RCV001857712
RCV002399717
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Cys51Tyr
CA324720
NM_001077401.2:c.152G>A