ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915963732
Gene: ACVRL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000008744
RCV002345234
ClinVar Variation:
8255
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Trp399Ser
CA119410
NM_001077401.2:c.1196G>C