Canonical Allele Identifier: PA2825004878
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1944271
ClinVar RCV Id: RCV002671073
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000011.2:p.Asp348Glu
CA384901849
NM_000020.3:c.1044C>A
CA384901850
NM_000020.3:c.1044C>G