ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825448528
Gene: ACVRL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002667875
ClinVar Variation:
1948619
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070869.1:p.Ser38Asn
CA384897562
NM_001077401.2:c.113G>A