ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091084
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
212797
ClinVar RCV Id:
RCV000200161
RCV001857712
RCV002399717
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Cys51Tyr
CA324720
NM_000020.3:c.152G>A