ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915992485
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55573
ClinVar RCV Id:
RCV000112651
RCV000235944
RCV001185950
RCV001302952
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Val705Phe
CA003588
NM_007298.3:c.2113G>T