ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915998556
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000111932
RCV001347234
RCV003157356
ClinVar Variation:
54672
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Val920Ala
CA001816
NM_007300.4:c.2759T>C