ClinGen Allele Registry
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Canonical Allele Identifier:
PA091067
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8243
ClinVar RCV Id:
RCV000008726
RCV000008727
RCV000522363
RCV002371767
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Arg411Gln
CA119395
NM_000020.3:c.1232G>A