ClinGen Allele Registry
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Canonical Allele Identifier:
PA915963435
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000008741
RCV001001392
ClinVar Variation:
8253
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Gly211Asp
CA119406
NM_001077401.2:c.632G>A