ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913191324
Gene: ACVRL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Ile417Phe
CA6573116
NM_000020.3:c.1249A>T