ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915963712
Gene: ACVRL1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001070869.1:p.Ile398Asn
NM_001077401.2:c.1193T>A