ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825004613
Gene: ACVRL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002320469
ClinVar Variation:
1727837
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Ser38Cys
CA384897561
NM_000020.3:c.112A>T