ClinGen Allele Registry
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Canonical Allele Identifier:
PA645429411
Gene: ACVRL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
210238
ClinVar RCV:
RCV000198604
RCV000414952
RCV000488871
RCV000502469
RCV000506673
RCV001003757
RCV002390510
ClinVar Variation:
212796
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Arg484Gln
CA323134
NM_001077401.2:c.1451G>A