ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139684771
Gene: ACVRL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001262032
ClinVar Variation:
982453
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Lys487Gln
CA384905893
NM_001077401.2:c.1459A>C