ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573176148
Gene: ACVRL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002012560
ClinVar Variation:
1493099
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Tyr375Phe
CA384902432
NM_001077401.2:c.1124A>T