ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825004995
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1512139
ClinVar RCV Id:
RCV002022873
RCV002389032
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Arg484Pro
CA384905812
NM_000020.3:c.1451G>C