ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915963731
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426027
ClinVar RCV Id:
RCV000488470
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Trp399Leu
CA384902886
NM_001077401.2:c.1196G>T