ClinGen Allele Registry
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Canonical Allele Identifier:
PA915963299
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
156350
ClinVar RCV Id:
RCV000144434
RCV002390302
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Gly48Glu
CA270765
NM_001077401.2:c.143G>A