ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825448619
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1790997
ClinVar RCV Id:
RCV002450393
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Pro81Ser
CA6572838
NM_001077401.2:c.241C>T