ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825004997
Gene: ACVRL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002394711
ClinVar Variation:
1773055
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Lys486Glu
CA236367781
NM_000020.3:c.1456A>G