ClinGen Allele Registry
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Canonical Allele Identifier:
PA111318
Gene: BFSP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
21622
ClinVar RCV:
RCV000006961
RCV000056969
ClinVar Variation:
6583
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003562.1:p.Arg287Trp
CA118356
NM_003571.4:c.859C>T