ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829692654
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1044703
ClinVar RCV Id:
RCV001348984
RCV002456516
RCV003607420
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Thr1075Ile
CA10595248
NM_007297.4:c.3224C>T