ClinGen Allele Registry
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Canonical Allele Identifier:
PA916029123
Gene: ACVR1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000198218
RCV000426913
RCV000437179
ClinVar Variation:
216885
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334596.1:p.Arg258Gly
CA278984
NM_001347667.2:c.772A>G