ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916029119
Gene: ACVR1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000022434
ClinVar Variation:
29597
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334596.1:p.Arg202Ile
CA128484
NM_001347667.2:c.605G>T