ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825004791
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2078343
ClinVar RCV Id:
RCV002988582
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Gly283Ser
CA384900538
NM_000020.3:c.847G>A