ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913191322
Gene: ACVRL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Lys373Arg
CA384902385
NM_000020.3:c.1118A>G