ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645430313
Gene: ACVRL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000011.2:p.Ala306Lys
NM_000020.3:c.916_917delinsAA