ClinGen Allele Registry
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Canonical Allele Identifier:
PA915963337
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426010
ClinVar RCV Id:
RCV000488479
RCV001050243
RCV002287412
RCV002244957
RCV002420248
RCV004551616
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Arg67Trp
CA384897887
NM_001077401.2:c.199C>T