Canonical Allele Identifier: PA091120
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 212802
ClinVar RCV Id: RCV000198205 RCV000762899 RCV002381661
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000011.2:p.Ser333Ile
CA322708
NM_000020.3:c.998G>T