Canonical Allele Identifier: PA915963712
Gene: ACVRL1 HGNC NCBI
ClinVar RCV:
RCV000008732
ClinVar Variation:
8248
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070869.1:p.Ile398Asn
CA254377
NM_001077401.2:c.1193T>A