ClinGen Allele Registry
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Canonical Allele Identifier:
PA915963644
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8254
ClinVar RCV Id:
RCV000008742
RCV000008743
RCV001507809
RCV001844010
RCV002381244
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Cys344Tyr
CA119408
NM_001077401.2:c.1031G>A