Canonical Allele Identifier: PA091082
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8254
ClinVar RCV Id: RCV000008742 RCV000008743 RCV001507809 RCV001844010 RCV002381244
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000011.2:p.Cys344Tyr
CA119408
NM_000020.3:c.1031G>A