Canonical Allele Identifier: PA2825448549
Gene: ACVRL1 HGNC NCBI
ClinVar RCV:
RCV000008731
ClinVar Variation:
8247
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070869.1:p.Gly48_Ala49delinsGluPro
CA254375
NM_001077401.2:c.143_147delinsAGCCT