ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091071
Gene: ACVRL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000488694
RCV001241423
ClinVar Variation:
426036
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Arg479Pro
CA384905687
NM_000020.3:c.1436G>C