ClinGen Allele Registry
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Canonical Allele Identifier:
PA091065
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411314
ClinVar RCV Id:
RCV000467491
RCV000488746
RCV001576840
RCV002436455
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Arg374Gln
CA16614168
NM_000020.3:c.1121G>A