ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915963798
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426030
ClinVar RCV Id:
RCV000488495
RCV000814063
RCV001755727
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Val442Met
CA384904129
NM_001077401.2:c.1324G>A