ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915963604
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
212801
ClinVar RCV Id:
RCV000197384
RCV000531199
RCV002381660
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Arg329His
CA321832
NM_001077401.2:c.986G>A