ClinGen Allele Registry
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Canonical Allele Identifier:
PA645430230
Gene: ACVRL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000488635
RCV000795036
RCV002438191
ClinVar Variation:
426011
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Asn98Ser
CA384898102
NM_000020.3:c.293A>G