ClinGen Allele Registry
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Canonical Allele Identifier:
PA091069
Gene: ACVRL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000008737
RCV000008738
RCV000199381
RCV002362571
ClinVar Variation:
8251
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Arg411Trp
CA119402
NM_000020.3:c.1231C>T