ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827401386
Gene: ACVR1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000019972
RCV001851956
ClinVar Variation:
18310
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334594.1:p.Gly356Asp
CA128037
NM_001347665.1:c.1067G>A