ClinGen Allele Registry
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Canonical Allele Identifier:
PA915963832
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000488579
RCV002272257
ClinVar Variation:
426039
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Lys487Thr
CA384905912
NM_001077401.2:c.1460A>C