ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915963833
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
389897
ClinVar RCV Id:
RCV000422770
RCV002393034
RCV002522537
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Leu489Pro
CA16606658
NM_001077401.2:c.1466T>C