ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573176157
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_001070869.1:p.Trp399Gly
CA384902880
NM_001077401.2:c.1195T>G