ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139684090
Gene: ACVRL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001043578
ClinVar Variation:
841374
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Ala306Pro
CA384900960
NM_001077401.2:c.916G>C