ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645430281
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426017
ClinVar RCV Id:
RCV000488783
RCV002431425
RCV003509546
RCV004017643
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Leu273Pro
CA384900434
NM_000020.3:c.818T>C