ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA322928
Gene: ACVRL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000011.2:p.Val228Ile
NM_000020.3:c.682G>A