ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139683966
Gene: ACVRL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000230219
RCV000506933
RCV001507805
RCV002372240
ClinVar Variation:
236552
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Ser233del
CA254369
NM_001077401.2:c.696_698del