ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579983531
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
868526
ClinVar RCV Id:
RCV001077443
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Lys1671Ile
CA10591493
NM_007294.4:c.5012A>T