ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827401117
Gene: ACVR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
208843
ClinVar RCV Id:
RCV000190876
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334593.1:p.Leu196Pro
CA204950
NM_001347664.1:c.587T>C