ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580207319
Gene: ACVR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2421839
ClinVar RCV Id:
RCV003116141
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334596.1:p.Val402Ile
CA59279116
NM_001347667.2:c.1204G>A