ClinGen Allele Registry
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Canonical Allele Identifier:
PA915963398
Gene: ACVRL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000488655
ClinVar Variation:
426013
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Val198Glu
CA384899778
NM_001077401.2:c.593T>A