ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658654014
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
444100
ClinVar RCV Id:
RCV000513095
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Arg67Pro
CA384897888
NM_000020.3:c.200G>C