ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825004987
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1772730
ClinVar RCV Id:
RCV002394386
RCV003619790
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Thr481Ile
CA384905729
NM_000020.3:c.1442C>T