ClinGen Allele Registry
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Canonical Allele Identifier:
PA3079844447
Gene: ACVRL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Ile485Val
CA384905830
NM_000020.3:c.1453A>G