Canonical Allele Identifier: PA2827400975
Gene: ACVR1 HGNC NCBI
ClinVar RCV:
RCV000022433
ClinVar Variation:
29596
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001334592.1:p.Arg375Pro
CA128483
NM_001347663.1:c.1124G>C