ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825004975
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
999259
ClinVar RCV Id:
RCV001295230
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Arg469Trp
CA6573170
NM_000020.3:c.1405C>T