ClinGen Allele Registry
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Canonical Allele Identifier:
PA645430420
Gene: ACVRL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000488495
RCV000814063
RCV001755727
ClinVar Variation:
426030
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Val442Met
CA384904129
NM_000020.3:c.1324G>A