ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825004621
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1338955
ClinVar RCV Id:
RCV001823409
RCV002545190
RCV003355554
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Arg47Trp
CA6572822
NM_000020.3:c.139C>T