ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139683816
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
951985
ClinVar RCV Id:
RCV001224004
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Cys77Trp
CA384897959
NM_001077401.2:c.231C>G