ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825004866
Gene: ACVRL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000815009
RCV002381824
ClinVar Variation:
658228
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Cys344Phe
CA384901742
NM_000020.3:c.1031G>T