ClinGen Allele Registry
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Canonical Allele Identifier:
PA915963662
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426023
ClinVar RCV Id:
RCV000488852
RCV000507211
RCV000525054
RCV002404279
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Ala352Asp
CA384901981
NM_001077401.2:c.1055C>A