Canonical Allele Identifier: PA2827401117
Gene: ACVR1 HGNC NCBI
ClinVar RCV:
RCV000190876
ClinVar Variation:
208843
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001334593.1:p.Leu196Pro
CA204950
NM_001347664.1:c.587T>C