ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741860673
Gene: ACVR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2778093
ClinVar RCV Id:
RCV003661251
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334596.1:p.Arg417Trp
CA59279114
NM_001347667.2:c.1249C>T