ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829697264
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55456
ClinVar RCV Id:
RCV000112563
RCV001171388
RCV001023725
RCV000585937
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Val1689Gly
CA003358
NM_007297.4:c.5066T>G