ClinGen Allele Registry
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Canonical Allele Identifier:
PA916029129
Gene: ACVR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
29594
ClinVar RCV Id:
RCV000022431
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334596.1:p.Gly328Trp
CA128481
NM_001347667.2:c.982G>T