ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825004983
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1330750
ClinVar RCV Id:
RCV001802409
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Ala478Pro
CA384905669
NM_000020.3:c.1432G>C