ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827401602
Gene: ACVR1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000022433
ClinVar Variation:
29596
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334595.1:p.Arg375Pro
CA128483
NM_001347666.1:c.1124G>C