Canonical Allele Identifier: PA091089
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 429940
ClinVar RCV Id: RCV000494459 RCV000554533 RCV004017648 RCV002446962
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000011.2:p.Glu379Lys
CA384902497
NM_000020.3:c.1135G>A