ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915963816
Gene: ACVRL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000414291
RCV000488776
RCV000513497
RCV000533545
RCV002392938
RCV003993947
ClinVar Variation:
372722
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Arg479Ter