Canonical Allele Identifier: PA2825004821
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2052691
ClinVar RCV Id: RCV002937639
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000011.2:p.Leu313Arg
CA384901168
NM_000020.3:c.938T>G