ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825004990
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2735880
ClinVar RCV Id:
RCV003508996
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Ala482Glu
CA384905746
NM_000020.3:c.1445C>A