ClinGen Allele Registry
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Canonical Allele Identifier:
PA645430423
Gene: ACVRL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000488647
RCV000756968
RCV002395184
RCV002527017
ClinVar Variation:
426031
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Ser462Ter