ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099982
Gene: ACVR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001096.1:p.Arg375Pro
NM_001105.5:c.1124G>C