ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645450333
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
233875
ClinVar RCV Id:
RCV000220504
RCV000554022
RCV000985402
RCV003316232
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Pro1190Leu
CA059382
NM_007294.4:c.3569C>T