ClinGen Allele Registry
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Canonical Allele Identifier:
PA915963420
Gene: ACVRL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Arg200Trp
CA236362870
NM_001077401.2:c.598C>T