ClinGen Allele Registry
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Canonical Allele Identifier:
PA915963526
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426017
ClinVar RCV Id:
RCV000488783
RCV002431425
RCV003509546
RCV004017643
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Leu273Pro
CA384900434
NM_001077401.2:c.818T>C