ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000169
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141540
ClinVar RCV Id:
RCV000130110
RCV000236943
RCV003997550
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser1266Ile
CA002446
NM_007300.4:c.3797G>T