ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA245045
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197093
ClinVar RCV Id:
RCV000178021
RCV001078539
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Leu162Phe
CA245043
NM_000020.3:c.484C>T