ClinGen Allele Registry
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Canonical Allele Identifier:
PA915992038
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54743
ClinVar RCV Id:
RCV000048035
RCV000111978
RCV000130154
RCV000159911
RCV000656789
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Glu953_Glu954del
CA001949
NM_007297.4:c.2857_2862del