ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645448655
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252866
ClinVar RCV Id:
RCV000238702
RCV000792368
RCV002392751
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Lys505Ile
CA10586096
NM_007294.4:c.1514A>T