ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915963608
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
212802
ClinVar RCV Id:
RCV000198205
RCV000762899
RCV002381661
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Ser333Ile
CA322708
NM_001077401.2:c.998G>T