ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000452
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
481448
ClinVar RCV Id:
RCV000568090
RCV000637586
RCV001193746
RCV003230546
RCV003480698
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Lys1322Arg
CA10594039
NM_007300.4:c.3965A>G