ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915963680
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426024
ClinVar RCV Id:
RCV000488853
RCV000792743
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Tyr375Cys
CA384902433
NM_001077401.2:c.1124A>G