ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825449121
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1772644
ClinVar RCV Id:
RCV002394300
RCV003138245
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Ile346Phe
CA384901776
NM_001077401.2:c.1036A>T