ClinGen Allele Registry
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Canonical Allele Identifier:
PA915963546
Gene: ACVRL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000488544
RCV001388094
RCV002413346
ClinVar Variation:
426018
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Leu285Phe
CA384900562
NM_001077401.2:c.853C>T