ClinGen Allele Registry
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Canonical Allele Identifier:
PA645430432
Gene: ACVRL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Arg479Gln
CA384905684
NM_000020.3:c.1436G>A