Canonical Allele Identifier: PA091101
Gene: ACVRL1 HGNC NCBI
ClinVar RCV:
RCV000008732
ClinVar Variation:
8248
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000011.2:p.Ile398Asn
CA254377
NM_000020.3:c.1193T>A