ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829693300
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54973
ClinVar RCV Id:
RCV000048295
RCV000112161
RCV000130925
RCV000413857
RCV000487176
RCV000588267
RCV002247443
RCV003149705
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ile1190Met
CA002380
NM_007297.4:c.3570A>G