ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828932877
Gene: BLTP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000576899
RCV001755963
ClinVar Variation:
487550
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371054.1:p.Arg968Cys
CA104783893
NM_001384125.1:c.2902C>T