ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827400994
Gene: ACVR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334592.1:p.Met418Thr
CA1918996
NM_001347663.1:c.1253T>C