ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915963562
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
811065
ClinVar RCV Id:
RCV001000664
RCV002249610
RCV002445157
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Ala306Val
CA6573017
NM_001077401.2:c.917C>T