ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829692034
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
240784
ClinVar RCV Id:
RCV000230349
RCV000509909
RCV000779897
RCV003998881
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Lys940Glu
CA10583570
NM_007297.4:c.2818A>G