ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825004931
Gene: ACVRL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001911102
RCV002334821
ClinVar Variation:
1391866
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Trp399Gly
CA384902880
NM_000020.3:c.1195T>G