ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915963685
Gene: ACVRL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000008728
RCV002444423
ClinVar Variation:
8244
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Met376Arg
CA254367
NM_001077401.2:c.1127T>G