ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915963815
Gene: ACVRL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000488621
ClinVar Variation:
426034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Ala478Asp
CA384905673
NM_001077401.2:c.1433C>A