ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825004773
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1412933
ClinVar RCV Id:
RCV001925620
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Asp263Asn
CA384900322
NM_000020.3:c.787G>A